Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Tahir AtikEsra IşıkHüseyin Onay Bilçağ Akgün Moharram ShamsaliKaan KavaklıMelike Sezgin Evim Gülen Tüysüz Namık Yaşar Özbek Fahri Şahin Zafer SalcıoğluCanan AlbayrakYeşim Oymak Ekrem Ünal Fatma Burcu BelenEbru Yılmaz KeskinCan Balkan Birol BaytanAlphan KüpesizVildan Culha Tuba Nur Tahtakesen Adalet Meral Güneş Ferda Özkınay

Published in: Turkish journal of haematology : official journal of Turkish Society of Haematology (2020)

A high mutation detection rate was achieved via the broad molecular techniques applied in this study, including 36 novel mutations. With regard to mutation types, mutation distribution and their impact on clinical severity and inhibitor development were found to be similar to those previously reported in other hemophilia population studies.

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