|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.
|
8547152 |
1995 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
|
21592258 |
2012 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.
|
1409710 |
1992 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.
|
8435341 |
1993 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.
|
7734373 |
1995 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.
|
8376405 |
1993 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
|
7620154 |
1995 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New variant of type II von Willebrand's disease with structural abnormality of plasma von Willebrand factor in a patient with very mild bleeding history.
|
7741134 |
1995 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.
|
8348943 |
1993 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A variant of type II von Willebrand disease with an abnormal triplet structure and discordant effects of protease inhibitors on plasma and platelet von Willebrand factor structure.
|
3493688 |
1987 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.
|
1832934 |
1991 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
|
1672694 |
1991 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The family study highly suggested that the propositus is the first case of homozygote for type IIC vWD gene, although previous studies have suggested that type IIC vWD is due to double heterozygosity of two different mutant genes.
|
8011991 |
1994 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants of VWF gene in type 2 von Willebrand disease.
|
30817071 |
2019 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
|
7620154 |
1995 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most cases appear to have a partial quantitative deficiency of VWF (type 1 VWD) with variable bleeding tendency, whereas qualitative variants (type 2 VWD), due to a dysfunctional VWF, are clinically more homogeneous.
|
12551832 |
2003 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).
|
1673047 |
1991 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.
|
12406074 |
2002 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.
|
1419804 |
1992 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.
|
1761120 |
1991 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequence variations in type 2 VWD are located in the region corresponding to the defect in the VWF protein found in each type 2 variant.
|
25696906 |
2014 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.
|
8486782 |
1993 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.
|
8123843 |
1994 |
|
von Willebrand Disease, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The frequency of the R924Q variant in the normal and type 1 VWD populations was ascertained, along with the associated polymorphic VWF haplotype.
|
19624459 |
2009 |