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Items for "von Willebrand disease"

Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease

The CK domain of von Willebrand factor (VWF) is involved in the dimerization of the protein. We identified the homozygous substitution A2801D of the CK domain in two siblings...

Keywords: von Willebrand factor, von Willebrand disease, type 2A VWF, dimerization, CK domain

05/2006 | Thrombosis and Haemostasis, Schattauer

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

Type 2N von Willebrand disease (VWD) is characterized by a markedly decreased affinity of von Willebrand factor (VWF) for factorVIII (FVIII) and is caused by mutations in the D or D3 domain of mature VWF...

Keywords: von Willebrand factor, von Willebrand disease, mutation, cleavage site

09/2006 | Thrombosis and Haemostasis, Schattauer

Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease

We describe the complex picture associated with a mutated splice junction in intron 13 of von Willebrand factor (VWF) gene...

Keywords: von Willebrand factor, von Willebrand disease, VWF mRNA, VWF mutations

12/2006 | Thrombosis and Haemostasis, Schattauer

Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain

The normal von Willebrand factor (vWF) multimer pattern results from the ADAMTS-13 cleavage of the Tyr 1605-Met 1606 bond in the A2 domain of vWF...

Keywords: von Willebrand factor, von Willebrand disease, vWF multimers, vWF proteolysis, vWF processing

04/2007 | Thrombosis and Haemostasis, Schattauer

Performance and utility of a cost-effective collagen-binding assay for the laboratory diagnosis of Von Willebrand disease

Background: The collagen-binding assay, a functional assay of Von Willebrand factor (VWF), discriminates the subtypes of Von Willebrand disease (VWD)...

Keywords: collagen-binding assay, von Willebrand disease, Von Willebrand disorder, von Willebrand factor

08/2007 | Clinical Chemical Laboratory Medicine, Walter de Gruyter