Article
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype?
Seminars in thrombosis and hemostasis - 1 Sept 2008
Othman Maha, Favaloro Emmanuel J
Abstract excerpt
Type 2B von Willebrand disease (VWD) is a qualitative type of VWD with a unique feature among VWD types, resulting from an increased binding of von Willebrand factor (VWF) to its platelet receptor glycoprotein 1b-alpha (GP1BA). This heightened responsiveness takes place in vivo without endothelial injury or shear stress induction, typically resulting in loss of the hemostatically most active high-molecular-weight...
Topics
- ADAM Proteins
- ADAMTS13 Protein
- Bleeding Time
- Humans
- Membrane Glycoproteins
- Membrane Proteins
- Mutation
- Phenotype
- Platelet Aggregation
- Platelet Function Tests
- Platelet Glycoprotein GPIb-IX Complex