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


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Atik T. , Işık E., Onay H. , Akgün B., Kavaklı K., Evim M., ...More

TURKISH JOURNAL OF HEMATOLOGY, vol.37, no.3, pp.145-153, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.4274/tjh.galenos.2020.2019.0262
  • Title of Journal : TURKISH JOURNAL OF HEMATOLOGY
  • Page Numbers: pp.145-153

Abstract

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 correlation.