|
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 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia A.
|
21654722 |
2011 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel point mutations causing haemophilia A.
|
12199686 |
2002 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
11 hemophilia A patients without mutations in the factor VIII encoding gene.
|
12195713 |
2002 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
|
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 |
|
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 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the factor VIII gene in thai hemophilia A patients.
|
10612839 |
2000 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.
|
9829908 |
1998 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.
|
1301960 |
1992 |
|
Hemophilia A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.
|
2106480 |
1990 |
|
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 |
|
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 |
|
Hemophilia A
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|