Article
Genetic abnormalities of Bernard-Soulier syndrome.
International journal of hematology - 1 Nov 2002
Kunishima Shinji, Kamiya Tadashi, Saito Hidehiko
Abstract excerpt
Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. BSS is characterized by giant platelets, thrombocytopenia, and prolonged bleeding time, and the hallmark of this disorder is the absence of ristocetin-induced platelet agglutination. In the last 10...
Topics
- Bernard-Soulier Syndrome
- Humans
- Japan
- Mutation
- Platelet Glycoprotein GPIb-IX Complex
- Protein Subunits