Demonstration of novel gain‐of‐function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia‐like phenotype

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Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

Integrin αIIbβ3 is indispensable for normal hemostasis, but its role for thrombopoiesis is still controversial. Recently, αIIb and β3 mutations have been identified in patients with congenital macrothrombocytopenia. We analyzed three unrelated Japanese families with congenital macrothrombocytopenia. Expression and activation state of αIIbβ3 in platelets was examined by flow cytometry and immuno...

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ژورنال

عنوان ژورنال: Molecular Genetics & Genomic Medicine

سال: 2013

ISSN: 2324-9269,2324-9269

DOI: 10.1002/mgg3.9