Article
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
Human mutation - 1 Mar 2010
Jallu Vincent, Dusseaux Mathilde, Panzer Simon, Torchet Marie-Françoise, Hezard Nathalie, Goudemand Jenny, de Brevern Alexandre G, Kaplan Cécile
Abstract excerpt
Glanzmann thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder characterized by an impaired platelet aggregation due to defects in integrin alphaIIbbeta3 (ITGA2B, ITGB3), a fibrinogen receptor. Mutations from 24 GT patients and two carriers of various origins, Caucasian, North-African and Asian were characterized. Promoter and exon sequences of alphaIIb and beta3 genes were amplified and...
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