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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Turk J Haematol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463214/
https://ncbi.nlm.nih.gov/pubmed/32026663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/tjh.galenos.2020.2019.0262
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados