Article
Molecular genetics of von Willebrand disease.
Annales de genetique - 1 Jan 1998
Mazurier C, Ribba A S, Gaucher C, Meyer D
Abstract excerpt
Von Willebrand disease (vWD), the most common congenital bleeding disorder in man, is related to quantitative and/or qualitative abnormalities of von Willebrand factor (vWF). This multimeric glycoprotein serves as carrier protein of factor VIII, an essential cofactor of coagulation in plasma, and...
Topics
- Binding Sites
- Blood Platelets
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 22
- Dimerization
- Endothelium, Vascular
- Factor VIII
- Female
- Fetal Diseases
- Genes, Dominant
- Genes, Recessive
- Humans
- Male
- Models, Molecular
- Molecular Weight
- Mutation
- Platelet Glycoprotein GPIb-IX Complex
- Polymerase Chain Reaction