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

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

TURKISH JOURNAL OF HEMATOLOGY, cilt.37, sa.3, ss.145-153, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4274/tjh.galenos.2020.2019.0262
  • Dergi Adı: TURKISH JOURNAL OF HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.145-153
  • Anahtar Kelimeler: Hemophilia A, F8 gene, Mutation, Inhibitors, Intron 22 inversion, Turkey, FACTOR-VIII GENE, FACTOR-IX, RECOMMENDATION, INVERSIONS, VARIANTS, GENOMICS, DATABASE
  • Akdeniz Üniversitesi Adresli: Evet

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.