Article
Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.
Platelets - 1 Jan 2015
Tokgoz Huseyin, Torun Ozkan Didem, Caliskan Umran, Akar Nejat
Abstract excerpt
Glanzmann's thrombasthenia (GT) is an inherited disorder of platelet aggregation, characterized by qualitative and quantitative defect on platelet αIIbβ3 integrin (GpIIb/IIIa), resulting in lifelong bleeding tendency due to defective platelet plug formation. The αIIb gene (ITGA2B) and β3 gene (ITGB3) are closely located at chromosome 17q21.31-32. ITGA2B consist of 30 exons and encoding α chain, whereas ITGB3 has...
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