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Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.

Leucine-rich repeats are a conserved structural motif, of yet undefined significance, found in a group of proteins from different species. Among these are the four components of the human platelet glycoprotein Ib-IX-V complex, a membrane receptor that performs an essential role in the thrombogenic f...

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Published in:J Clin Invest
Main Authors: Ware, J, Russell, S R, Marchese, P, Murata, M, Mazzucato, M, De Marco, L, Ruggeri, Z M
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 1993
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288260/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7690774/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116692
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