A nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expression.

doi:10.1046/j.1365-2141.1996.d01-1903.x

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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...

Topics

Adolescent
Blotting, Western
Codon, Terminator
Homozygote
Humans
Male
Mutation
Platelet Glycoprotein GPIIb-IIIa Complex
Polymerase Chain Reaction
Thrombasthenia

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