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

Tahir AtikEsra IşıkHüseyin OnayBilçağ AkgünMoharram ShamsaliKaan KavaklıMelike Sezgin EvimGülen TüysüzNamık Yaşar ÖzbekFahri ŞahinZafer SalcıoğluCanan AlbayrakYeşim OymakEkrem ÜnalFatma Burcu BelenEbru Yılmaz KeskinCan BalkanBirol BaytanAlphan KüpesizVildan CulhaTuba Nur TahtakesenAdalet Meral GüneşFerda 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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