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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Dades bibliogràfiques

Publicat a:	Proc Natl Acad Sci U S A
Autors principals:	Ware, J, Russell, S R, Vicente, V, Scharf, R E, Tomer, A, McMillan, R, Ruggeri, Z M
Format:	Artigo
Idioma:	Inglês
Publicat:	National Academy of Sciences 1990
Matèries:	Research Article
Accés en línia:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53618/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2308962/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.5.2026
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