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Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa.

Thrombosis and haemostasis - 1 Apr 2002

Arias-Salgado Elena G, Tao Jianming, González-Manchón Consuelo, Butta Nora, Vicente Vicente, Ayuso Matilde S, Parrilla Roberto

Abstract excerpt

We report the molecular genetic analysis of a patient with thrombasthenic phenotype. The lack of surface platelet GPIIb-IIIa complexes and the presence of GPIIIa suggested it was a case of type I Glanzmann's thrombasthenia due to a mutation in GPIIb. Single stranded conformational polymorphism analysis (SSCP) of exon-19 of GPIIb showed polymorphic DNA bands. The DNA sequence of exon-19 revealed the presence of a...

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PMID: 12008952

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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