×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
Biomarker
GENOMICS_ENGLAND
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
28971901 2017
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
"Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A."
1906179 1991
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.
1429668 1992
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.
1419803 1992
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
1420817 1992
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.
7789955 1995
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.
8338947 1993
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
2010538 1991
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.
8622978 1996
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.
2011604 1991
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
1729889 1992
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.
2786201 1989
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.
8123844 1994
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.
8547152 1995
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
Biomarker
CTD_human
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
21592258 2012
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.
1409710 1992
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
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
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.
7734373 1995
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
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
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
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
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
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
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
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
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
GeneticVariation
UNIPROT
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
1672694 1991