Condition: Hemophilia A


rs111033613 in F8 gene and Hemophilia A PMID 21654722 2011 Clinical utility gene card for: haemophilia A.

PMID 23157203 2013 Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.

PMID 1356412 1992 GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin.

PMID 12203998 2002 Identification of seven novel mutations of F8C by DHPLC.

PMID 10612839 2000 Mutations of the factor VIII gene in thai hemophilia A patients.

PMID 1301960 1992 Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.

PMID 12351418 2002 Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

PMID 2106480 1990 Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

PMID 2498882 1989 Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

PMID 10886198 2000 Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.

PMID 9569180 1998 Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.

PMID 10404764 1999 Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres.

PMID 2510835 1989 A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

PMID 8322269 1993 Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene.

PMID 12195713 2002 11 hemophilia A patients without mutations in the factor VIII encoding gene.

PMID 8759905 1996 Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.

PMID 10691849 2000 Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.

PMID 9452104 1998 Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).

PMID 9829908 1998 Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.

PMID 12199686 2002 Three novel point mutations causing haemophilia A.

PMID 9792405 1998 Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.

PMID 10215414 1998 Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online.

PMID 10612839 2000 We have identified six potentially pathogenic mutations in the factor VIII gene in Thai hemophilia A patients, including two nonsense mutations (R-5X and R1966X), three missense mutations (D542Y, G1850V, and G2325C), and a 4-bp insertion (ACTA) at codon 2245.

PMID 9792405 1998 The missense mutations G479R, R531C, V537D, N2129S and I2190N were found for five patients with a moderate course of hemophilia A disease.

PMID 9792405 1998 The missense mutations G479R, R531C, V537D, N2129S and I2190N were found for five patients with a moderate course of hemophilia A disease.

PMID 1924291 1991 Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

PMID 24108539 2014 Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.

rs137852228 in F9 gene and Hemophilia A PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.