Article
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations.
Blood - 27 Aug 2009
Dumont Bénédicte, Lasne Dominique, Rothschild Chantal, Bouabdelli Maxime, Ollivier Véronique, Oudin Claire, Ajzenberg Nadine, Grandchamp Bernard, Jandrot-Perrus Martine
Abstract excerpt
The glycoprotein VI (GPVI)/FcRgamma complex is a key receptor for platelet activation by collagen. We describe, for the first time, 2 genetic abnormalities in one patient. This 10-year-old girl presented ecchymoses since infancy, a prolonged bleeding time despite a normal platelet count and no antiplatelet antibodies. Collagen-induced platelet activation was null, whereas GPVI quantification by flow cytometry...
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