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


ATİK T., IŞIK E., Onay H., Akgun B., Shamsali M., Kavaklo K., ...Daha Fazla

TURKISH JOURNAL OF HEMATOLOGY, cilt.37, ss.145-153, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

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.