Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.

Abstract excerpt

Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yüzüncü...

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