Familial dilated cardiomyopathy brought on by a novel variant

0 Comments
prionics

Subsequent era sequencing reveals a novel pathogenic variant within the ATMgene

 

Introduction: Ataxia telangiectasia (A-T) is a unusual autosomal recessive multisystemic sickness. Victims with the A-T syndrome present a broad spectrum of sickness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.

 

Methodology: A affected particular person of Persian origin presenting with typical A-T was referred to our genetics center for specialised genetic counseling and testing. Centered next-generation sequencing (NGS) was utilized. Sanger sequencing was used to substantiate the candidate variant. Modeling was carried out using the SWISS-MODEL server.Outcomes: A homozygous stop-gain variant c.829G > T (p.E277*) was found throughout the ATM gene. This variant was confirmed by Sanger sequencing and modeling of native building and truncated building was carried out.

 

Conclusion: So far, only some pathogenic variants of the ATM gene have been reported from the Iranian inhabitants. The discovering has implications in molecular diagnostic for A-T in Iran.

prionics
prionics

RIPA Lysis Buffer (Strong)

HY-K1001 100 mL
EUR 176.4

Carbol Fuchsin (ZN,Strong)

S005-125ML 1 unit
EUR 3.16
Description: Carbol Fuchsin (ZN,Strong)

Carbol Fuchsin (ZN,Strong)

S005-500ML 1 unit
EUR 10.92
Description: Carbol Fuchsin (ZN,Strong)

RIPA Lysis Buffer (Strong)

abx090624-100l 100 µl
EUR 150

RIPA Lysis Buffer (Strong)

abx090624-1ml 1 ml Ask for price

RIPA Lysis Buffer (Strong)

abx090624-200l 200 µl Ask for price

Strong RIPA Lysis Buffer

EZPS03-1 100mL
EUR 15

RIPA Lysis Buffer (Strong)

E-BC-R327-100mL 100mL
EUR 80

RIPA Lysis Buffer (Strong)

E-BC-R327-20mL 20mL
EUR 25

RIPA Lysis Buffer (Strong)

E-BC-R327-50mL 50mL
EUR 60

RIPA Lysis Buffer (Strong)

E-BC-R327-each each Ask for price

WB Stripping Solution Strong

05677-65 500ML
EUR 142.8

Arg-SEC Mobile Phase(Strong)

17000-51 1L
EUR 105

Pierce Seal Strong Roll - 1ROLL

PCR0636 1ROLL
EUR 1314.9

HiDecal (Strong decalcifying solution)

R085-500ML 1 unit
EUR 21.95
Description: HiDecal (Strong decalcifying solution)

Pierce Seal Strong Sheets - PK100

PCR0632 PK100
EUR 140.4

replacement tip Kit strong thick

INS2090 EACH
EUR 8.33

Modified Duncan Strong (DS) Medium

M1237-500G 1 unit
EUR 80.55
Description: Modified Duncan Strong (DS) Medium

Pierce Seal Strong Roll610mX78mm - 1ROLL

PCR0628 1ROLL
EUR 1104.3

Western Stripping buffer (Strong alkaline)

EZWB03-1-100mL 100mL
EUR 9.6

Western Stripping buffer (Strong alkaline)

EZWB03-1-500mL 500mL
EUR 28.8

Tweezers Fine Strong CF Tips - EACH

INS5058 EACH
EUR 37.6

Tweezers Flat Strong CF Tips - EACH

INS5100 EACH
EUR 43.92

PCR Foil Seal Strong Sheets - PK100

PCR0528 PK100
EUR 211.95

EP Reagent Sodium Hypochlorite Sol. Strong - 500ML

10816005 500ML
EUR 136.35

Pierce Seal Strong Sample Roll - 1ROLL

PCR0630 1ROLL
EUR 59.63

replacement tip Kit strong thick - EACH

INS2058 EACH
EUR 11.65

replacement tip Kit strong point - EACH

INS2094 EACH
EUR 11.65

Modified Duncan Strong (DS) HiVeg Medium

MV1237-500G 1 unit
EUR 80.55
Description: Modified Duncan Strong (DS) HiVeg Medium

Strong RIPA Lysis Buffer (without inhibitors)

EZPS03-2 100mL
EUR 12.6

EP Reagent Sodium Hydroxide Sol. Strong - 1L

1081404 1L
EUR 191.7

Tweezers, Rubis Sturdy, Strong Pointed, 115mm, 4.5€

25046-1 1EA
EUR 48

Silver Protein for Histology, Strong (not certified)

25108-25 25g
EUR 431
Description: 9015-51-4

Silver Protein for Histology, Strong (not certified)

25108-5 5g
EUR 113
Description: 9015-51-4

Magnetic Base Support Z w/ Strong Magnet - 34.5mm

M-R-1013161 1 UNIT
EUR 46
Description: Magnetic Base Support Z w/ Strong Magnet - 34.5mm

Magnetic Base Support Z w/ Strong Magnet - 27.5mm

M-R-1015229 1 UNIT
EUR 46
Description: Magnetic Base Support Z w/ Strong Magnet - 27.5mm

UCW5072, Low TOC Strong Base Anion Resin, OH Form

50240-1 1000ml
EUR 192

UCW5072, Low TOC Strong Base Anion Resin, OH Form

50240-250 250ml
EUR 62

Genistin

1535-10 each
EUR 196.8

Genistin

G350020 10mg
EUR 63
Description: 529-59-9

Genistin

GC2802-10 10
EUR 242.4

Genistin

GC2802-100 100
EUR 960.1

Genistin

GC2802-25 25
EUR 382.3

Genistin

GC2802-250 250
EUR 1845.7

Genistin

GC2802-50 50
EUR 577.8

Genistin

540154 500.0mg
EUR 450

Genistin

T2882-10mg 10mg Ask for price
Description: Genistin

Genistin

T2882-1g 1g Ask for price
Description: Genistin

Genistin

T2882-1mg 1mg Ask for price
Description: Genistin

Genistin

T2882-50mg 50mg Ask for price
Description: Genistin

Genistin

T2882-5mg 5mg Ask for price
Description: Genistin

Genistin

TB0370-1000 4X20mg
EUR 321.6

Genistin

HY-N0595 50mg
EUR 170.4

Genistin

N1860-20 20 mg
EUR 100
Description: TdT inhibitor

Genistin

abx282781-100g 100 µg Ask for price

Genistin

abx282781-20g 20 µg
EUR 106.25

Genistin

abx282781-50g 50 µg
EUR 250

A510, Type 2 Macroporous Strong Base Rsin, Chloride Form

50223-1 1000ml
EUR 144
Description: 69011-15-0

DiagAg™ Strong Anion Exchange Agarose Particles, 40 μm

DAG-CL23-08 25 mL
EUR 1150

A510, Type 2 Macroporous Strong Base Resin, Chloride Form

50223-250 250ml
EUR 47
Description: 69011-15-0

A400, Type 1 Porous Strong Base Anion Resin, Chorlide Form

50218-1 1000ml
EUR 144
Description: 9052-45-3

A400, Type 1 Porous Strong Base Anion Resin, Chorlide Form

50218-250 250ml
EUR 47
Description: 9052-45-3

Genistin, >99%

BC034-025 25mg
EUR 278.4

Genistin, >99%

BC034-050 50mg
EUR 327.6

Genistin, >99%

BC034-100 100mg
EUR 537.6

Genistin(Genistoside)

E1KS2301 25mg
EUR 211.2

Genistin malonate

TB0588-0005 10mg
EUR 886.8

Optically clear sealing film for qPCR, Strong Bond, for PP plates, 100/pk

MS1000-PCR2 1 each
EUR 149.35

DiagAg™ Phenyl Agarose Strong Hydrophobic Medium, 6% Crosslinked, 24-45 µm

DAG-YS23-27 25 mL
EUR 850

Genistin 6''-O-Acetate

G350030 100mg
EUR 7600
Description: 73566-30-0

Genistin 6''-O-Malonate

G350035 250mg
EUR 11200
Description: 51011-05-3

Foil seals, strong bonding for cold storage (-200 to 110°C) and DMSO, for PP plates, 100/pk

MS1000-F2 1 each
EUR 149.35

DiagAg™ Phenyl Agarose Strong Hydrophobic Medium, 6% Crosslinked, 45-165 µm, Low Capacity

DAG-YS23-28 25 mL
EUR 850

DiagAg™ Phenyl Agarose Strong Hydrophobic Medium, 6% Crosslinked, 45-165 µm, High Capacity

DAG-YS23-29 25 mL
EUR 850

Estrogen receptor (ER) IHC control with strong, moderate, low/negative expressersHumanBreastBreastIHC control

ERC083 1.5mm
EUR 50

Rat Strongyloid IgG

QY-E11978 96T
EUR 420

genesig Easy kit for Strongylus vulgaris

Z-Path-S.vulgaris-EASY 50 tests
EUR 410
Description: S.vulgaris

Strongyloides IgG/IgM

DESTRO0690 96
EUR 134

Strongzyme Goat anti Mouse IgG (H+L) (HRP)

43R-1653 1 ml
EUR 763.2
Description: Strongzyme Goat anti-Mouse IgG (H+L) secondary antibody (HRP)

Strongzyme Rabbit anti Goat IgG (H+L) (HRP)

43R-1650 1 ml
EUR 813
Description: Strongzyme Rabbit anti Goat IgG (H + L) (HRP) secondary antibody

Strongzyme Goat anti Rabbit IgG (H + L) (HRP)

43R-1652 1 ml
EUR 648
Description: Strongzyme Goat anti Rabbit IgG (H + L) secondary antibody (HRP)

QPCR Kit DNA Strongylus vulgaris

MOL8942 EACH
EUR 987.17

Human Strongyloides IgG Elisa Kit

EK713927 96 Wells
EUR 0.4

QPCR Kit DNA Strongylus vulgaris - EACH

MOL8940 EACH
EUR 1129.51

genesig Real-time PCR detection kit for Strongylus vulgaris

Z-Path-S-vulgaris 150 tests
EUR 808
Description: S.vulgaris

genesig Std Real-time PCR detection kit, Strongylus vulgaris

Z-Path-S-vulgaris-std 150 tests
EUR 602
Description: S.vulgaris

Strongyloides (IgG/IgM) ELISA Kit (Human) (OKNA00174)

OKNA00174 96 Wells
EUR 505.2
Description: Description of target: Strongyloides is a genus containing some 50 species of obligate gastrointestinal parasites of vertebrates. Strongyloides stercoralis is the scientific name of a human parasitic roundworm causing the disease of strongyloidiasis. Its common name is pinworm in the UK and threadworm in the US. The Strongyloides stercoralis nematode can parasitize humans. The adult parasitic stage lives in tunnels in the mucosa of the small intestine.S. stercoralis can be found in areas with tropical and subtropical climates but cases also occur in temperate area, more frequently in rural areas. S. stercoralis has a very low prevalence in societies where fecal contamination of soil or water is rare. Many people infected are usually asymptomatic at first. Symptoms include dermatitis: swelling, itching, larva currens, and mild hemorrhage at the site where the skin has been penetrated. If the parasite reaches the lungs, the chest may feel as if it is burning, and wheezing and coughing may result, along with pneumonia-like symptoms (Löffler's syndrome). The intestines could eventually be invaded, leading to burning pain, tissue damage, sepsis, and ulcers. In severe cases, edema may result in obstruction of the intestinal tract, as well as loss of peristaltic contractions. Strongyloides infection in immunocompromised individuals (particularly following the administration of steroids, for example following transplant surgery) can result in disseminated strongyloidiasis, in which worms move beyond the confines of the gut into other organs. This is fatal unless antiStrongyloides therapy is given.Locating juvenile larvae, either rhabditiform or filariform, in recent stool samples will confirm the presence of this parasite. Other techniques used include direct fecal smears, culturing fecal samples on agar plates, serodiagnosis through ELISA, and duodenal fumigation.;Species reactivity: Human;Application: ;Assay info: Assay Methodology: Quantitative Reverse Capture Sandwich ELISA ;Sensitivity: Sensitivity is determined as the probability of the assay indicating a positive score in samples with the specific analyte present: 87.9%

StrongZyme Streptavidin-PolyHRP (High Load)

43R-1645 1 mg
EUR 380
Description: StrongZyme Streptavidin-PolyHRP conjugate (High Load)

Fscn1 (GFP-tagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1)

MG207918 10 µg Ask for price

Fscn1 (untagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1), (10ug)

MC216780 10 µg Ask for price

FSCN1 (GFP-tagged) - Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1)

RG203031 10 µg Ask for price

FSCN1 (untagged)-Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1)

SC118222 10 µg Ask for price

Fscn1 (Myc-DDK-tagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1)

MR207918 10 µg Ask for price

FSCN1 (untagged)-Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1)

SC320744 10 µg Ask for price

Fscn2 (untagged) - Mouse fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), (10ug)

MC216896 10 µg Ask for price

Fscn3 (untagged ORF) - Rat fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3), (10 ug)

RN201308 10 µg Ask for price

Rabbit polyclonal antibody to Fascin (fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus))

TA308801 100 µl Ask for price

FSCN1 (Myc-DDK-tagged)-Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1)

RC203031 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mGFP tagged

RC203031L2 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mGFP tagged

RC203031L4 10 µg Ask for price

Lenti ORF clone of Fscn1 (mGFP-tagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1)

MR207918L4 10 µg Ask for price

Fscn2 (untagged ORF) - Rat fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), (10 ug)

RN206219 10 µg Ask for price

Fscn3 (GFP-tagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3)

MG207995 10 µg Ask for price

Fscn3 (untagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3), (10ug)

MC216995 10 µg Ask for price

FSCN3 (GFP-tagged) - Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3)

RG207492 10 µg Ask for price

Fscn2 (Myc-DDK-tagged ORF) - Rat fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), (10 ug)

RR206219 10 µg Ask for price

Fscn3 (Myc-DDK-tagged ORF) - Rat fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3), (10 ug)

RR201308 10 µg Ask for price

3`UTR clone of fascin homolog 1 actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1) for miRNA target validation

SC213307 10 µg Ask for price

FSCN3 (untagged)-Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3)

SC323970 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), Myc-DDK-tagged

RC203031L1 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), Myc-DDK-tagged

RC203031L3 10 µg Ask for price

Fscn2 (Myc-DDK-tagged) - Mouse fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2)

MR225952 10 µg Ask for price

Lenti ORF clone of Fscn1 (Myc-DDK-tagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1)

MR207918L3 10 µg Ask for price

Fscn2 (GFP-tagged) - Mouse fascin homolog 2 actin-bundling protein retinal (Strongylocentrotus purpuratus) (Fscn2), (10ug)

MG225952 10 µg Ask for price

FSCN3 (Myc-DDK-tagged)-Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3)

RC207492 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mGFP tagged

RC207492L4 10 µg Ask for price

Lenti ORF clone of Fscn2 (Myc-DDK-tagged ORF) - Rat fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), (1

RR206219L3 10 µg Ask for price

Lenti ORF clone of Fscn2 (mGFP-tagged ORF) - Rat fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), (10 u

RR206219L4 10 µg Ask for price

Lenti ORF particles, FSCN1 (Myc-DDK tagged) - Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), 200ul, >10^

RC203031L1V 200 µl Ask for price

Lenti ORF particles, FSCN1 (mGFP-tagged) - Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), 200ul, >10^7 T

RC203031L2V 200 µl Ask for price

Lenti ORF particles, FSCN1 (Myc-DDK tagged) - Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), 200ul, >10^

RC203031L3V 200 µl Ask for price

Lenti ORF particles, FSCN1 (mGFP-tagged) - Human fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), 200ul, >10^7 T

RC203031L4V 200 µl Ask for price

Lenti ORF clone of Fscn2 (mGFP-tagged) - Mouse fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2)

MR225952L4 10 µg Ask for price

Lenti ORF particles, Fscn1 (Myc-DDK-tagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1), 200ul, >10^

MR207918L3V 200 µl Ask for price

Lenti ORF particles, Fscn1 (GFP-tagged) - Mouse fascin homolog 1, actin bundling protein (Strongylocentrotus purpuratus) (Fscn1), 200ul, >10^7 TU

MR207918L4V 200 µl Ask for price

Fscn3 (Myc-DDK-tagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3)

MR207995 10 µg Ask for price

Lenti ORF particles, FSCN2 (Myc-DDK tagged) - Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), tr

RC221223L3V 200 µl Ask for price

Lenti ORF clone of Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 1, mGFP ta

RC221223L4 10 µg Ask for price

Lenti ORF particles, FSCN2 (Myc-DDK tagged) - Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), tr

RC221276L3V 200 µl Ask for price

Lenti ORF clone of Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mGFP ta

RC221276L4 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), Myc-DDK-tagged

RC207492L3 10 µg Ask for price

FSCN2 (GFP-tagged) - Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 1

RG221223 10 µg Ask for price

FSCN2 (GFP-tagged) - Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2

RG221276 10 µg Ask for price

Lenti ORF particles, Fscn2 (Myc-DDK-tagged ORF) - Rat fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2),

RR206219L3V 200 µl Ask for price

Lenti ORF particles, Fscn2 (GFP-tagged ORF) - Rat fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), 200u

RR206219L4V 200 µl Ask for price

Lenti ORF clone of Fscn3 (Myc-DDK-tagged ORF) - Rat fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3),

RR201308L3 10 µg Ask for price

Lenti ORF clone of Fscn3 (mGFP-tagged ORF) - Rat fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3), (1

RR201308L4 10 µg Ask for price

Lenti ORF particles, Fscn3 (GFP-tagged ORF) - Rat fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3), 2

RR201308L4V 200 µl Ask for price

FSCN2 (untagged)-Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 1

SC303980 10 µg Ask for price

Lenti ORF clone of Fscn2 (Myc-DDK-tagged) - Mouse fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2)

MR225952L3 10 µg Ask for price

Lenti ORF particles, Fscn2 (GFP-tagged) - Mouse fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), 200ul,

MR225952L4V 200 µl Ask for price

Lenti ORF clone of Fscn3 (Myc-DDK-tagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3)

MR207995L3 10 µg Ask for price

Lenti ORF clone of Fscn3 (mGFP-tagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3)

MR207995L4 10 µg Ask for price

FSCN2 (untagged)-Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2

SC315582 10 µg Ask for price

FSCN2 (Myc-DDK-tagged)-Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 1

RC221223 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 1, Myc-DDK

RC221223L3 10 µg Ask for price

Lenti ORF particles, FSCN2 (mGFP-tagged) - Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), trans

RC221223L4V 200 µl Ask for price

FSCN2 (Myc-DDK-tagged)-Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2

RC221276 10 µg Ask for price

Lenti ORF clone of Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, Myc-DDK

RC221276L3 10 µg Ask for price

Lenti ORF particles, FSCN2 (mGFP-tagged) - Human fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), trans

RC221276L4V 200 µl Ask for price

Lenti ORF particles, FSCN3 (Myc-DDK tagged) - Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3),

RC207492L3V 200 µl Ask for price

Lenti ORF particles, FSCN3 (mGFP-tagged) - Human fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), 20

RC207492L4V 200 µl Ask for price

Lenti ORF particles, Fscn3 (Myc-DDK-tagged ORF) - Rat fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3

RR201308L3V 200 µl Ask for price

Lenti ORF particles, Fscn2 (Myc-DDK-tagged) - Mouse fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (Fscn2), 20

MR225952L3V 200 µl Ask for price

Lenti ORF particles, Fscn3 (Myc-DDK-tagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3),

MR207995L3V 200 µl Ask for price

Lenti ORF particles, Fscn3 (GFP-tagged) - Mouse fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (Fscn3), 200

MR207995L4V 200 µl Ask for price

Human Strontium (Strontium) Elisa Kit

EK710512 96 Wells
EUR 0.98

Strontium Oxide

32315-42 25G
EUR 61.6

Strontium Oxide

abx186564-500g 500 g
EUR 309.6

Strontium oxide, 99.5%

GX8751-50 50
EUR 585.6

Strontium Iodate 99%

S09620 10G
EUR 135

Strontium Acetate

32302-02 25G
EUR 22.75

Strontium acetate

S09490 100G
EUR 216.3

Strontium bromide 99%

S09540 100G
EUR 242.2

Strontium ferrite 99.5%

S09575 5G
EUR 191.06

Familial dilated cardiomyopathy introduced on by a novel variant throughout the Lamin A/C gene: a case report

Background: Familial dilated cardiomyopathy (FDCM) is generally inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been acknowledged to be associated to DCM, conductive system issues, sort 2 Emery-Dreifuss muscular dystrophy and plenty of different totally different issues. Proper right here, we reported a novel variant throughout the LMNA gene that’s prone to be related to FDCM.

 

Case presentation: A 30-year-old youthful man was hospitalized for chest tightness, extreme fatigue, palpitation and impaired train tolerance. He had scientific traits along with cardiac dilatation, atrial tachyarrhythmia, excessive conductive system issues, and dyskinesia of every increased limbs and the neck. Genetic sequence analysis indicated that the affected particular person carried a novel c.1325 T>C heterozygous LMNA gene variant. Catheter ablation and cardiac resynchronization treatment with pacing carry out (CRT-P) have been carried out to take care of the arrhythmia.

 

Conclusion: The variant c.1325 T>C is a novel variant throughout the LMNA gene that has not been beforehand reported. Youthful victims with DCM, conductive system issues and skeletal myopathy should be alert to the potential for LMNA gene variant. Cardiac resynchronization treatment (CRT) may be an inexpensive choice for affected particular person carrying a LMNA gene variant with third-degree atrioventricular block even when the left ventricular ejection fraction is preserved with the intention to cease the deterioration of cardiac carry out introduced on by correct ventricular pacing dependency.

 

Genetic analysis of children with congenital ocular anomalies in three ecological areas of Nepal: a bit II of Nepal pediatric ocular sicknesses analysis

 

Background: Genetic eye sicknesses characterize an enormous and heterogeneous group of childhood ocular morbidity. Explicit particular person sicknesses may set off plenty of structural anomalies and developmental choices. Nepal Pediatric Ocular Sickness Analysis (NPODS) was a population-based epidemiological analysis carried out all through three ecological areas of Nepal to search out out the prevalence and etiology of childhood ocular morbidity and blindness. In Half II of this analysis, genetic analysis was carried out for youths who’ve been found to have congenital ocular anomalies.

 

Methodology: It was a cross sectional descriptive analysis. A whole of 10,270 children all through three completely totally different ecological areas in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of children with ocular abnormalities, 30 have been thought-about congenital in nature. Centered genetic analysis, along with genotyping for genes specific to presenting phenotype, was carried out for 25 children using serum samples.

 

Outcomes: Out of 25 children, 18 had vital genetic outcomes. Analysis revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in a single participant amongst 10 with congenital ptosis and one different missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in a single participant amongst Three with microphthalmos.

 

Conclusion: The analysis is first of its type from Nepal and mutant genes have been distinctive to Nepalese Inhabitants. Extra analysis of genetic parts is important to increased understand genetic affiliation with ocular sicknesses and conditions. This helps further in genetic counseling and likely gene treatment to forestall blindness from these conditions.

 

Doxorubicin hydrochloride

100280 100.0mg
EUR 150

Doxorubicin Hydrochloride

40410004-1 10 mg
EUR 136.34

Doxorubicin Hydrochloride

40410004-2 25 mg
EUR 273.17

Doxorubicin Hydrochloride

D558000 100mg
EUR 136
Description: 25316-40-9

Doxorubicin hydrochloride

ADC-P-014 unit Ask for price

Doxorubicin (hydrochloride)

HY-15142 100mg
EUR 176.4

Doxorubicin hydrochloride

GA4969-100MG 100 mg
EUR 217.2

Doxorubicin hydrochloride

GA4969-10MG 10 mg
EUR 93.6

Doxorubicin hydrochloride

GA4969-25MG 25 mg
EUR 117.6

Doxorubicin hydrochloride

GA4969-50MG 50 mg
EUR 151.2

Doxorubicin Hydrochloride

SIH-390-10MG 10 mg
EUR 129
Description: Apoptosis Inducer

Doxorubicin Hydrochloride

SIH-390-50MG 50 mg
EUR 465
Description: Apoptosis Inducer

Doxorubicin hydrochloride

T1020-10mg 10mg Ask for price
Description: Doxorubicin hydrochloride

Doxorubicin hydrochloride

T1020-1g 1g Ask for price
Description: Doxorubicin hydrochloride

Doxorubicin hydrochloride

T1020-1mg 1mg Ask for price
Description: Doxorubicin hydrochloride

Doxorubicin hydrochloride

T1020-50mg 50mg Ask for price
Description: Doxorubicin hydrochloride

Doxorubicin hydrochloride

T1020-5mg 5mg Ask for price
Description: Doxorubicin hydrochloride

Doxorubicin hydrochloride

TNC00267 20mg Ask for price

Doxorubicin hydrochloride, 98%

GP9056-100 100
EUR 140.2

Doxorubicin hydrochloride, 98%

GP9056-25 25
EUR 56.1

Doxorubicin hydrochloride USP

D005-10MG 10 mg
EUR 117.34
Description: C27H29NO11•HCl

Doxorubicin hydrochloride USP

D005-25MG 25 mg
EUR 234.67
Description: C27H29NO11•HCl

10 mM Doxorubicin hydrochloride

DOX10 100 ul
EUR 92

Doxorubicin hydrochloride, USP grade

GA4969-10 10
EUR 47.4

Doxorubicin hydrochloride, USP grade

GA4969-100 100
EUR 150.4

Doxorubicin hydrochloride, USP grade

GA4969-25 25
EUR 67.2

Doxorubicin hydrochloride, USP grade

GA4969-50 50
EUR 95

Doxorubicin-hydrazone-caproyl-maleimide Hydrochloride (~80%)

D399610 250mg
EUR 150

Doxorubicinol hydrochloride

T40736-10mg 10mg Ask for price
Description: Doxorubicinol hydrochloride

Doxorubicinol hydrochloride

T40736-1g 1g Ask for price
Description: Doxorubicinol hydrochloride

Doxorubicinol hydrochloride

T40736-1mg 1mg Ask for price
Description: Doxorubicinol hydrochloride

Doxorubicinol hydrochloride

T40736-50mg 50mg Ask for price
Description: Doxorubicinol hydrochloride

Doxorubicinol hydrochloride

T40736-5mg 5mg Ask for price
Description: Doxorubicinol hydrochloride

Doxorubicinol Hydrochloride (>90%) (Mixture of diastereomers)

D558020 10mg
EUR 141

Hydroxyacetyl Doxorubicin

H415946 25mg
EUR 15000

Doxorubicin

abx188695-1g 1 g
EUR 560.4

Doxorubicin

D063-100MG 100 mg
EUR 1261.2

Doxorubicin

D063-25MG 25 mg
EUR 131.79
Description: C27H29NO11

Doxorubicin

D063-5MG 5 mg
EUR 460.82
Description: C27H29NO11

Doxorubicin

A3966-10 10 mg
EUR 48
Description: Topo II inhibitor,immunosuppresive antineoplastic antibiotic

Doxorubicin

A3966-100 100 mg
EUR 154
Description: Topo II inhibitor,immunosuppresive antineoplastic antibiotic

Doxorubicin

A3966-25 25 mg
EUR 67
Description: Topo II inhibitor,immunosuppresive antineoplastic antibiotic

Doxorubicin

A3966-5.1 10 mM (in 1mL DMSO)
EUR 44
Description: Topo II inhibitor,immunosuppresive antineoplastic antibiotic

Doxorubicin

A3966-S Evaluation Sample
EUR 22
Description: Topo II inhibitor,immunosuppresive antineoplastic antibiotic

Doxorubicin

ADC-P-013 unit Ask for price

Doxorubicin

HY-15142A 100mg
EUR 258

Doxorubicin

T1456-10mg 10mg Ask for price
Description: Doxorubicin

Doxorubicin

T1456-1g 1g Ask for price
Description: Doxorubicin

Doxorubicin

T1456-1mg 1mg Ask for price
Description: Doxorubicin

Doxorubicin

T1456-50mg 50mg Ask for price
Description: Doxorubicin

Doxorubicin

T1456-5mg 5mg Ask for price
Description: Doxorubicin

Doxorubicin HCl

20-abx184016
  • Ask for price
  • Ask for price
  • 1 g
  • 5 g

Doxorubicin HCl

abx076623-25ml 25 ml
EUR 187.5

Doxorubicin HCl

abx076623-5ml 5 ml
EUR 118.75

Doxorubicin [BSA]

DAG-WT1084B 1 mg
EUR 520
Description: Synthetic

Doxorubicin [OVA]

DAG-WT1084O 1 mg
EUR 520
Description: Synthetic

Doxorubicin 10mM

TG4120 0.25ml
EUR 187.2

Doxorubicin-SMCC

406622 1.0mg
EUR 90

Doxorubicin-MVCP

T31567-10mg 10mg Ask for price
Description: Doxorubicin-MVCP

Doxorubicin-MVCP

T31567-1g 1g Ask for price
Description: Doxorubicin-MVCP

Doxorubicin-MVCP

T31567-1mg 1mg Ask for price
Description: Doxorubicin-MVCP

Doxorubicin-MVCP

T31567-50mg 50mg Ask for price
Description: Doxorubicin-MVCP

Doxorubicin-MVCP

T31567-5mg 5mg Ask for price
Description: Doxorubicin-MVCP

Doxorubicin-SMCC

T15161-10mg 10mg Ask for price
Description: Doxorubicin-SMCC

Doxorubicin-SMCC

T15161-1g 1g Ask for price
Description: Doxorubicin-SMCC

Doxorubicin-SMCC

T15161-1mg 1mg Ask for price
Description: Doxorubicin-SMCC

Doxorubicin-SMCC

T15161-50mg 50mg Ask for price
Description: Doxorubicin-SMCC

Doxorubicin-SMCC

T15161-5mg 5mg Ask for price
Description: Doxorubicin-SMCC

Doxorubicin HCl, 100mg

R2531 100mg
EUR 1080.79

Doxorubicin HCl, 100mg

R2531-100mg each
EUR 1560

Doxorubicin HCl, 10mg

R2531-10mg each
EUR 236.4

Adriamycin (Doxorubicin)

E1KS1208 10mg
EUR 276

Doxorubicin Free Base

100960 10.0mg
EUR 150

Doxorubicin (Adriamycin) HCl

A1832-10 10 mg
EUR 36
Description: Antitumour antibiotic,inhibits TOPO II.

Doxorubicin (Adriamycin) HCl

A1832-100 100 mg
EUR 128
Description: Antitumour antibiotic,inhibits TOPO II.

Doxorubicin (Adriamycin) HCl

A1832-25 25 mg
EUR 52
Description: Antitumour antibiotic,inhibits TOPO II.

Doxorubicin (Adriamycin) HCl

A1832-5.1 10 mM (in 1mL DMSO)
EUR 44
Description: Antitumour antibiotic,inhibits TOPO II.

4'O-Benzyl Doxorubicin

B788120 100mg
EUR 1200
Description: 677017-23-1

N-(Iodoacetamido)-Doxorubicin

T18418-10mg 10mg Ask for price
Description: N-(Iodoacetamido)-Doxorubicin

N-(Iodoacetamido)-Doxorubicin

T18418-1g 1g Ask for price
Description: N-(Iodoacetamido)-Doxorubicin

N-(Iodoacetamido)-Doxorubicin

T18418-1mg 1mg Ask for price
Description: N-(Iodoacetamido)-Doxorubicin

N-(Iodoacetamido)-Doxorubicin

T18418-50mg 50mg Ask for price
Description: N-(Iodoacetamido)-Doxorubicin

N-(Iodoacetamido)-Doxorubicin

T18418-5mg 5mg Ask for price
Description: N-(Iodoacetamido)-Doxorubicin

7-Deoxy Doxorubicin Aglycone (> 75%)

D232910 10mg
EUR 299
Description: 38554-25-5

PEGylated Liposomal Doxorubicin- 2 mg

PHPC002DX 2 mg
EUR 140.62
Description: This product includes 1 ml of liposomal doxorubicin at concentrations of 2 mg/ml doxorubicin and 16 mg/ml of lipids.

PEGylated Liposomal Doxorubicin- 20 mg

PHPC020DX 20 mg
EUR 358.62
Description: This product includes 10 ml of liposomal doxorubicin at concentrations of 2 mg/ml doxorubicin and 16 mg/ml of lipids.

Doxorubicin-hydrazone-caproyl-maleimide

D558040 100mg
EUR 1800
Description: 151038-96-9

Human Doxorubicin-Stimulated HeLa Whole Cell Lysate

IHUHELADTLW500UG each
EUR 327
Description: Human Doxorubicin-Stimulated HeLa Whole Cell Lysate

Human Doxorubicin-Stimulated HeLa Nuclear Extract Lysate

IHUHELADTLN200UG each
EUR 427
Description: Human Doxorubicin-Stimulated HeLa Nuclear Extract Lysate

7,8-Desacetyl-9,10-dehydro Daunorubicinone (~90%)(Doxorubicin Impurity)

D288680 10mg
EUR 4281
Description: 1159977-24-8

Human HeLa (Cervix Adenocarcinoma) Whole Cell Lysate - Doxorubicin Stimulated

HCL-2010 100ug
EUR 255.6

6,8,11-Trihydroxy-1-methoxy-5,12-naphthacenedione (Doxorubicin Impurity)

T795210 10mg
EUR 244
Description: 64845-67-6

Human HeLa (Cervix Adenocarcinoma) Cell Nuclear Extract - Doxorubicin Stimulated

HCL-2004 100ug
EUR 270

Des-[(4-Amino-2,3,6-trideoxy-hexapyranosyl)oxy)-1-methyl] 2-Carboxylate Doxorubicin

D558001 100mg
EUR 4500

Doxorubicin.HCl

1527-5 each
EUR 183.6

Doxorubicinol (>90%)

D558025 2.5mg
EUR 1929

Doxorubicinol

T25349-10mg 10mg Ask for price
Description: Doxorubicinol

Doxorubicinol

T25349-1g 1g Ask for price
Description: Doxorubicinol

Doxorubicinol

T25349-1mg 1mg Ask for price
Description: Doxorubicinol

Doxorubicinol

T25349-50mg 50mg Ask for price
Description: Doxorubicinol

Doxorubicinol

T25349-5mg 5mg Ask for price
Description: Doxorubicinol

Doxorubicinone

D559070 25mg
EUR 244
Description: 24385-10-2

Doxorubicinone

T29673-10mg 10mg Ask for price
Description: Doxorubicinone

Doxorubicinone

T29673-1g 1g Ask for price
Description: Doxorubicinone

Doxorubicinone

T29673-1mg 1mg Ask for price
Description: Doxorubicinone

Doxorubicinone

T29673-50mg 50mg Ask for price
Description: Doxorubicinone

Doxorubicinone

T29673-5mg 5mg Ask for price
Description: Doxorubicinone

APY29 Hydrochloride Salt

A735422 100mg
EUR 224

Axomadol Hydrochloride Salt

A583490 100mg
EUR 11200
Description: 187219-95-0

Morphine Hydrochloride Salt

M652280 100mg
EUR 500
Description: 52-26-6

OPC 4392 Hydrochloride Salt

O667500 100mg
EUR 193

3-N-Carboxylic Acid 1-beta-D-Glucuronide-[4-(methyl)phenyl]carbamate Ester Doxorubicin

C177855 50mg
EUR 11200
Description: 211364-63-5

Carazolol hydrochloride salt

574509 50.0mg
EUR 285

Erlotinib, Hydrochloride Salt

1588-100 each
EUR 202.8

Erlotinib, Hydrochloride Salt

1588-1000 each
EUR 477.6

Carazolol Hydrochloride Salt

C175810 100mg
EUR 138
Description: 51997-43-4

Osutidine Hydrochloride Salt

O703910 100mg
EUR 1696

Tofenacin Hydrochloride Salt

T528500 10mg
EUR 339

CHIR 99021 Hydrochloride Salt

C292157 100mg
EUR 178

Difloxacin Hydrochloride Salt

D445600 100mg
EUR 460
Description: 91296-86-5

Dimethacrine Hydrochloride Salt

D460270 100mg
EUR 4500
Description: 100000-17-7

Pexidartinib Hydrochloride Salt

P293640 100mg
EUR 800
Description: 2040295-03-0

Ramifenazone Hydrochloride Salt

R110500 100mg
EUR 86
Description: 18342-39-7

Volinanserin Hydrochloride Salt

V755000 1mg
EUR 598

Lysinoalanine Hydrochloride Salt

L488650 10mg
EUR 219
Description: 93113-28-1

Aposcopolamine Hydrochloride Salt

A729005 100mg
EUR 230
Description: 890416-03-2

7,8,9,10-Dehydro Doxorubicinone (~70%)

D229580 10mg
EUR 5528
Description: 1159977-23-7

I-CBP 112 Hydrochloride Salt

I163880 5mg
EUR 403
Description: 2147701-33-3

Erlotinib, Hydrochloride Salt, >99%

BC026-101 1g
EUR 327.6

Erlotinib, Hydrochloride Salt, >99%

BC026-102 2g
EUR 465.6

Erlotinib, Hydrochloride Salt, >99%

BC026-105 5g
EUR 684

Bleomycin A5 Hydrochloride Salt

B595750 10mg
EUR 230
Description: 55658-47-4

Dopamine -13C8 Hydrochloride Salt

D533784 25mg
EUR 7600

Peramine Hydrochloride Salt-d3

P285302 10mg
EUR 184

Carazolol-d6, Hydrochloride Salt

C175812 50mg
EUR 181
Description: 1184973-07-6

Tofenacin Hydrochloride Salt-d4

T528502 10mg
EUR 190

17-DMAG, Hydrochloride Salt, >98%

BC024-001 1mg
EUR 213.6

17-DMAG, Hydrochloride Salt, >98%

BC024-005 5mg
EUR 343.2

17-DMAG, Hydrochloride Salt, >98%

BC024-010 10mg
EUR 489.6

17-DMAG, Hydrochloride Salt, >98%

BC024-025 25mg Ask for price

17-DMAG, Hydrochloride Salt, >99%

BC024-100 100mg Ask for price

17-DMAG, Hydrochloride Salt, >99%

BC024-101 1g Ask for price

17-DMAG, Hydrochloride Salt, >99%

BC024-250 250mg Ask for price

Difloxacin-d3 Hydrochloride Salt

D445601 10mg
EUR 127
Description: 1173021-89-0

rac-Emixustat Hydrochloride Salt

B224873 1g
EUR 3000
Description: 1222169-23-4

Abeprazan dimer Hydrochloride salt

A642330 100mg
EUR 17000

Flupirtine-d4 Hydrochloride Salt

F598512 10mg
EUR 215
Description: 1324717-75-0

Bromo Didehydro Doxorubicinone

B682880 25mg
EUR 1200
Description: 63626-06-2

b-Isothipendyl Hydrochloride Salt

I902751 100mg
EUR 845
Description: 132962-42-6

Ondansetron-d3 Hydrochloride Salt

O655002 10mg
EUR 193
Description: 1346605-02-4

cis-Mefentanyl Hydrochloride Salt

M205505 50mg
EUR 232
Description: 78995-18-3

rac Metanephrine Hydrochloride Salt

M258760 100mg
EUR 207
Description: 881-95-8

OSU-03012, Hydrochloride Salt, >98%

BC061-005 5mg
EUR 375.6

OSU-03012, Hydrochloride Salt, >98%

BC061-025 25mg
EUR 634.8

MEL3 Isomer I Hydrochloride Salt

M155671 50mg
EUR 15000

MEL3 Isomer II Hydrochloride Salt

M155672 50mg
EUR 7600

Dimethacrine Hydrochloride Salt-d3

D460272 100mg
EUR 9200

Iso Desloratadine Hydrochloride Salt

I815005 10mg
EUR 1185

Linear Daptomycin Hydrochloride Salt

L466475 2.5mg
EUR 269

Volinanserin-d4 Hydrochloride Salt

V755002 10mg
EUR 265
Description: 1217617-73-6

2'-Nor Thiamine Hydrochloride Salt

N830500 100mg
EUR 249
Description: 49614-72-4

Apovincaminic Acid Hydrochloride Salt

A729250 500mg
EUR 193
Description: 72296-47-0

Tamsulosin Diether Hydrochloride Salt

E736620 100mg
EUR 695

Keto-Isoxsuprine Hydrochloride Salt

K606400 100mg
EUR 1200

Synephrine-13C2,15N Hydrochloride Salt

S920002 0.1mg
EUR 1722
Description: 1329499-30-0

Apovincaminic acid hydrochloride salt

T37406-10mg 10mg Ask for price
Description: Apovincaminic acid hydrochloride salt

Apovincaminic acid hydrochloride salt

T37406-1g 1g Ask for price
Description: Apovincaminic acid hydrochloride salt

Apovincaminic acid hydrochloride salt

T37406-1mg 1mg Ask for price
Description: Apovincaminic acid hydrochloride salt

Apovincaminic acid hydrochloride salt

T37406-50mg 50mg Ask for price
Description: Apovincaminic acid hydrochloride salt

Apovincaminic acid hydrochloride salt

T37406-5mg 5mg Ask for price
Description: Apovincaminic acid hydrochloride salt

Reticuline Hydrochloride Salt (>90% ee)

R188500 0.5mg
EUR 2070
Description: 903-91-3

(R)-Norphenylephrine Hydrochloride Salt

N825510 25mg
EUR 3000
Description: 636-87-3

Dehydroxy Mirabegron Hydrochloride Salt

D230170 250mg
EUR 201
Description: 1581284-79-8

5-Nitroisoindoline Hydrochloride Salt

N496370 1g
EUR 75
Description: 400727-69-7

Azetidin-3-ol Hydrochloride Salt

A813200 25g
EUR 357
Description: 18621-18-6

Leave a Reply

Your email address will not be published.