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

Atik, Tahir; Işık, Esra; Onay, Huseyin; Akgun, Bilcag; Shamsali, Moharram; Kavaklo, Kaan; Sezgin Evim, MELİKE; Tüysüz Kintrup, Gülen; Ozbek, Namik; Şahin, Fahri; Salcioglu, Zafer; Albayrak, Canan; Oymak, Yesim; Ünal, Ekrem; Belen, Fatma; Yilmaz, Ebru; Balkan, Can; Baytan, Birol; Kupesiz, Alphan; Culha, Vildan; Gucer, Tuba; Gunes, ADALET; Ozkinay, Ferda

doi:10.4274/tjh.galenos.2020.2019.0262

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

Atik T., Işık 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, Scopus, TRDizin)

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
Bursa Uludağ 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.