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...
Spremljeno u:
| Izdano u: | Proc Natl Acad Sci U S A |
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| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
1990
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| Teme: | |
| Online pristup: | 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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