|
rs41276738
|
|
von Willebrand Disease, Type 2
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
|
21592258 |
2012 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.
|
8622978 |
1996 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.
|
8547152 |
1995 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.
|
7789955 |
1995 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Investigation of type IIC von Willebrand disease.
|
8011991 |
1994 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.
|
8123843 |
1994 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.
|
8338947 |
1993 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.
|
8486782 |
1993 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.
|
1419803 |
1992 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.
|
1409710 |
1992 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
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 |
|
rs61749370
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A."
|
1906179 |
1991 |
|
rs61749384
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
|
21592258 |
2012 |
|
rs61749384
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.
|
8622978 |
1996 |
|
rs61749384
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.
|
7789955 |
1995 |
|
rs61749384
|
|
von Willebrand Disease, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.
|
8547152 |
1995 |