Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.

doi:10.1111/jth.12966

Article

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2015

Levin C, Koren A, Pretorius E, Rosenberg N, Shenkman B, Hauschner H, Zalman L, Khayat M, Salama I, Elpeleg O, Shalev S

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BACKGROUND: The FYB gene encodes adhesion and degranulation-promoting adaptor protein (ADAP), a hematopoietic-specific protein involved in platelet activation, cell motility and proliferation, and integrin-mediated cell adhesion. No ADAP-related diseases have been described in humans, but ADAP-deficient mice have mild thrombocytopenia and increased rebleeding from tail wounds. PATIENTS AND METHODS: We studied a...

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Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.

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