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Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.

Blood Coagul Fibrinolysis

December 2017

aDepartment of Hematology, Faculty of Allied Medicine, Iran University of Medical SciencesbDepartment of Pediatrics, Baqiyatallah University of Medical Sciences, TehrancDepartment of Hematology and Laboratory Sciences, Faculty of Allied Medicine, Kerman University of Medical Sciences, KermandDepartment of Veterinary Sciences, Baft Branch, Islamic Azad University, BafteDepartment of Pediatric Hematology Oncology, Iran University of Medical Science, TehranfIranian Comprehensive Hemophilia Care Centre, Tehran, Iran.

: Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia. A large variety of mutations and polymorphisms are responsible for the aberrant expression and defective activity of this heterodimeric complex. The current study aimed to determine the pattern of mutations among Iranian population with Glanzmann's thrombasthenia.

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