Article
Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Aug 1992
Piétu G, Ribba A S, de Paillette L, Chérel G, Lavergne J M, Bahnak B R, Meyer D
Abstract excerpt
The defective von Willebrand Factor (vWF) in type IIA von Willebrand disease (vWD) has decreased binding affinity for platelet membrane glycoprotein Ib (GPIb) while in type IIB vWD, the abnormal vWF has increased affinity for this receptor. Segments of exon 28 of the vWF gene were amplified by th...
Topics
- Base Sequence
- Cloning, Molecular
- DNA
- Exons
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- von Willebrand Diseases
- von Willebrand Factor