TURKISH JOURNAL OF HEMATOLOGY, vol.37, no.3, pp.145-153, 2020 (SCI-Expanded)
Article / Article
TURKISH JOURNAL OF HEMATOLOGY
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
Hemophilia A, F8 gene, Mutation, Inhibitors, Intron 22 inversion, Turkey, FACTOR-VIII GENE, FACTOR-IX, RECOMMENDATION, INVERSIONS, VARIANTS, GENOMICS, DATABASE
Bursa Uludag University Affiliated:
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.