A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

Monogenic deficiency diseases provide unique opportunities to define the contributions of individual molecules to human physiology and to identify pathologies arising from their dysfunction. Here we describe a deficiency disease in two human siblings that presented with severe bleeding, frequent inf...

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Main Authors: Malinin, Nikolay L, Zhang, Li, Choi, Jeongsuk, Ciocea, Alieta, Razorenova, Olga, Ma, Yan-Qing, Podrez, Eugene A, Tosi, Michael, Lennon, Donald P, Caplan, Arnold I, Shurin, Susan B, Plow, Edward F, Byzova, Tatiana V
格式: Artigo
語言:Inglês
出版: 2009
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2857384/
https://ncbi.nlm.nih.gov/pubmed/19234460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.1917
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