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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Detalles Bibliográficos
Autores principales: Atik, Tahir, Işık, Esra, Onay, Hüseyin, Akgün, Bilçağ, Shamsali, Moharram, Kavaklo, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463214/
https://www.ncbi.nlm.nih.gov/pubmed/32026663
http://dx.doi.org/10.4274/tjh.galenos.2020.2019.0262

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