|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
"Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A."
|
1906179 |
1991 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.
|
1429668 |
1992 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defect of heparin binding in plasma and recombinant von Willebrand factor with type 2 von Willebrand disease mutations.
|
11776314 |
2001 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additional resources include references linked to sequence variation entries, descriptors of each VWD type, genomic and cDNA sequences, nomenclature for VWF and its attributes, Human Genome Variation Society sequence variant nomenclature recommendations, multimer images, and related densitometry traces for type 2 VWD.
|
22102189 |
2011 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.
|
1419803 |
1992 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eight single amino acid substitutions were found in nine kindreds, four of which were novel candidate VWF mutations and four previously described in association with type 2 VWD.
|
11154147 |
2000 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
|
1420817 |
1992 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene.
|
15113383 |
2004 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.
|
7789955 |
1995 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.
|
28696025 |
2017 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
von Willebrand disease (VWD) type 2 is associated with mutations in von Willebrand factor (VWF) that affect its secretion, multimeric pattern, affinity for platelet receptors and clearance of the protein.
|
17087728 |
2007 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.
|
8338947 |
1993 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New mass spectrometry strategies are applied to resolve the structural effects of 2B and 2M mutations in VWF to verify the presence of A1 domain structural disorder in multimeric VWF harboring type 2 VWD mutations.
|
31628947 |
2020 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gastrointestinal angiodysplasia in a patient with type 2 von Willebrand's disease and analysis of exon 28 of the von Willebrand factor gene.
|
15571600 |
2004 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
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 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.
|
8622978 |
1996 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
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 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
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 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.
|
2786201 |
1989 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Children with VWD type 2 show a variable response to desmopressin depending on the mutation that correlates with the functional defect and the presence or absence as well as the half-life of large VWF multimers.
|
19404524 |
2009 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-binding A1 domain of von Willebrand factor (VWF).
|
26019279 |
2015 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In type 2A VWD, molecular abnormalities identified in the A2 domain, which contains a specific proteolytic site, are associated with alterations in folding, impairing VWF secretion or increasing its susceptibility to proteolysis.
|
11843298 |
2002 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exon 28 of the VWF gene is known to be a hot spot for type 2 VWD mutations.
|
23179108 |
2013 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
VWD is classified into quantitative deficiencies of VWF (type 1 and type 3 VWD) and qualitative variants (type 2 VWD), because of a dysfunctional VWF.
|
23852183 |
2013 |
|
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.
|
8123844 |
1994 |