Article
A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2009
Hermans C, Wittevrongel C, Thys C, Smethurst P A, Van Geet C, Freson K
Abstract excerpt
BACKGROUND: The physiological relevance of the collagen glycoprotein VI (GPVI) receptor was known prior to its recognition as a platelet membrane receptor as several patients lacking GPVI as a consequence of autoantibody inhibition presented with a mild bleeding diathesis. Remarkably, patients with a proven GPVI gene mutation have not yet been identified. RESULTS: In the present study, we describe a patient with...
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