|
von Willebrand Disease, Type 2
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
von Willebrand Disease, Type 2
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
|
von Willebrand Disease, Type 2N
|
|
0.730 |
CausalMutation
|
CLINVAR |
|
|
|
|
von Willebrand Disease, Type 1
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
von Willebrand Disease, Recessive Form
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.
|
1581215 |
1992 |
|
von Willebrand Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.
|
1581215 |
1992 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction.
|
1906877 |
1991 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.
|
1918030 |
1991 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
|
8500791 |
1993 |
|
von Willebrand Disease, Type 2
|
|
0.810 |
GeneticVariation
|
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
|
15461624 |
2004 |
|
von Willebrand Disease, Type 2N
|
|
0.730 |
GeneticVariation
|
BEFREE |
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
|
16953269 |
2006 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
|
16953269 |
2006 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).
|
16985174 |
2007 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.
|
18712522 |
2009 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
The genetic basis of von Willebrand disease.
|
20409624 |
2010 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis.
|
21371195 |
2011 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
|
22197721 |
2012 |
|
von Willebrand Disease, Type 2N
|
|
0.730 |
GeneticVariation
|
BEFREE |
These data strongly suggest a founder effect, with a single R854Q mutation event being the cause of the type 2N von Willebrand's disease in our cohort of patients.
|
22875612 |
2013 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
|
22875612 |
2013 |
|
von Willebrand Disease, Type 1
|
|
0.710 |
GeneticVariation
|
BEFREE |
We examined BOECs derived from a single subject heterozygous for a type 2N mutation (p.Arg854Gln) and from 4 patients with type 1 VWD who were, respectively, heterozygous for p.Ser1285Pro, p.Leu1307Pro, p.Tyr1584Cys, and p.Cys2693Tyr.
|
23426949 |
2013 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
We examined BOECs derived from a single subject heterozygous for a type 2N mutation (p.Arg854Gln) and from 4 patients with type 1 VWD who were, respectively, heterozygous for p.Ser1285Pro, p.Leu1307Pro, p.Tyr1584Cys, and p.Cys2693Tyr.
|
23426949 |
2013 |
|
von Willebrand Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Compromised shear-dependent cleavage of type 2N von Willebrand factor variants by ADAMTS13 in the presence of factor VIII.
|
23636243 |
2013 |