Article
De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 1997
Kunishima S, Heaton D C, Naoe T, Hickton C, Mizuno S, Saito H, Kamiya T
Abstract excerpt
Pseudo (or platelet-type)- von Willebrand disease (vWD) is a very rare autosomal dominant bleeding disorder caused by an abnormal hyper-responsiveness of the platelet membrane glycoprotein (GP) Ib/IX complex, the receptor for von Willebrand factor. We found a heterozygous missense mutation in the...
Topics
- Adult
- Humans
- Male
- Mutation
- Platelet Glycoprotein GPIb-IX Complex
- von Willebrand Diseases