rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
23157203
2013
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: haemophilia A.
21654722
2011
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Three novel point mutations causing haemophilia A.
12199686
2002
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Identification of seven novel mutations of F8C by DHPLC.
12203998
2002
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
12351418
2002
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
11 hemophilia A patients without mutations in the factor VIII encoding gene.
12195713
2002
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.
10886198
2000
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Mutations of the factor VIII gene in thai hemophilia A patients.
10612839
2000
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.
10691849
2000
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres.
10404764
1999
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
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.
10215414
1998
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
9792405
1998
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.
9569180
1998
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.
9829908
1998
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
9452104
1998
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
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.
8759905
1996
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
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.
8322269
1993
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin.
1356412
1992
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.
1301960
1992
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.
2106480
1990
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).
2498882
1989
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
0.800
GeneticVariation
UNIPROT
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.
2510835
1989
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
T
0.800
CausalMutation
CLINVAR
rs28933668
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
A
0.800
CausalMutation
CLINVAR