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 GPIb alpha gene in a sporadic case with pseudo-vWD: Met (ATG) to Val (GTG) at residue 239. The mutation was not...
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