Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.

Three distinct gene products, the alpha and beta chains of glycoprotein (GP) Ib and GP IX, constitute the platelet membrane GP Ib-IX complex, a receptor for von Willebrand factor and thrombin involved in platelet adhesion and aggregation. Defective function of the GP Ib-IX complex is the hallmark of...

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Autores principales: Ware, J, Russell, S R, Vicente, V, Scharf, R E, Tomer, A, McMillan, R, Ruggeri, Z M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1990
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC53618/
https://ncbi.nlm.nih.gov/pubmed/2308962
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