[HTML][HTML] A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder
C Hermans, C Wittevrongel, C Thys… - Journal of Thrombosis …, 2009 - Elsevier
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 a lifelong history of
bleeding problems, structurally normal platelets but a functional platelet defect. Platelet …
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 a lifelong history of
bleeding problems, structurally normal platelets but a functional platelet defect. Platelet …