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

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

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 corre...

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Bibliographic Details
Main Authors: Tahir Atik, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Moharram Shamsali, Kaan Kavaklo, Melike Evim, Gülen Tüysüz, Namık Yaşar Özbek, Fahri Şahin, Zafer Salcıoğlu, Canan Albayrak, Yeşim Oymak, Ekrem Ünal, Fatma Burcu Belen, Ebru Yılmaz Keskin, Can Balkan, Birol Baytan, Alphan Küpesiz, Vildan Culha, Tuba Nur Tahtakesen, Adalet Meral Güneş, Ferda Özkınay
Format: Article
Language:English
Published: Galenos Publishing House 2020-08-01
Series:Turkish Journal of Hematology
Subjects:
hemophilia a
f8 gene
mutation
inhibitors
intron 22 inversion
turkey
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-65625

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https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-65625

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