Article
A nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expression.
British journal of haematology - 1 Nov 1996
Vinciguerra C, Khelif A, Alemany M, Morle F, Grenier C, Uzan G, Gulino D, Dechavanne M, Negrier C
Abstract excerpt
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder, caused by a quantitative or qualitative defect of the GPIIb-IIIa integrin (alpha IIb beta 3), which functions as the platelet fibrinogen receptor. We report a case of type I GT due to a homozygous mutation resulting in Ser 870 to stop codon substitution. This residue is located near the proteolytic cleavage site of proGPIIb. The...
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