Article
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
Turkish journal of haematology : official journal of Turkish Society of Haematology - 28 Aug 2020
Atik Tahir, Işık Esra, Onay Hüseyin, Akgün Bilçağ, Shamsali Moharram, Kavaklı Kaan, Evim Melike, Tüysüz Gülen, Özbek Namık Yaşar, Şahin Fahri, Salcıoğlu Zafer, Albayrak Canan, Oymak Yeşim, Ünal Ekrem, Belen Fatma Burcu, Yılmaz Keskin Ebru, Balkan Can, Baytan Birol, Küpesiz Alphan, Culha Vildan, Tahtakesen Güçer Tuba Nur, Güneş Adalet Meral, Özkınay Ferda
Abstract excerpt
Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation. Materials and Methods: All HA cases (270 patients) analyzed molecularly in the Ege University Pediatric...
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