Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.

Abstract excerpt

Plasma von Willebrand factor (vWf) is a multi-domain multimerized glycoprotein which has a dual role in haemostasis: it promotes platelet adhesion to subendothelium and is the carrier of blood coagulation factor VIII (FVIII). We previously characterized a functional defect of vWf, limited to its ability to bind FVIII, in two families whose affected members have the same phenotype that mimics mild haemophilia A...

Topics

• Adult
• Base Sequence
• DNA
• Electrophoresis, Polyacrylamide Gel
• Exons
• Female
• Fibrinolysin
• Genes
• Humans
• Mutation
• Pedigree
• Phenotype