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A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

International journal of molecular sciences(2021)

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关键词
Bernard-Soulier syndrome,GPIb-IX complex,inherited platelet disorders,inherited thrombocytopenia,vWF receptor
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