[HTML][HTML] An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families
V Matus, G Valenzuela, CG Sáez, P Hidalgo… - Journal of Thrombosis …, 2013 - Elsevier
Summary Background Glycoprotein VI (GPVI), 60–65 kDa, is a major collagen receptor on
platelet membranes involved in adhesive and signaling responses. Mice lacking GPVI have
impaired platelet response to collagen and defective primary adhesion and subsequent
thrombus formation. Complete or partial deficiency of GPVI in humans is a rare condition
presenting as a mild bleeding disorder. The defect in most of the reported patients is
acquired and associated with other diseases. To date, only two patients have been …
platelet membranes involved in adhesive and signaling responses. Mice lacking GPVI have
impaired platelet response to collagen and defective primary adhesion and subsequent
thrombus formation. Complete or partial deficiency of GPVI in humans is a rare condition
presenting as a mild bleeding disorder. The defect in most of the reported patients is
acquired and associated with other diseases. To date, only two patients have been …