Article
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.
Thrombosis and haemostasis - 1 May 2005
Losonczy Gergely, Rosenberg Nurit, Kiss Csongor, Kappelmayer János, Vereb György, Kerényi Adrienne, Balogh István, Muszbek László
Abstract excerpt
The absence of agonist-induced platelet aggregation and the lack of fibrinogen receptor (GPIIb/IIIa) on the platelet surface demonstrated that the severe hemorrhagic complications of a child of Romany descent were caused by Glanzmann thrombasthenia. DNA sequencing revealed a novel homozygous deletion of a cytosine (1619delC) in the GPIIb gene causing a frameshift and predicting a novel stop codon at position 533...
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