The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey

Erdogan M., KÖSE M., PEKCAN S., HANGÜL M., Balta B., Kiraz A., ...Daha Fazla

BALKAN MEDICAL JOURNAL, cilt.38, sa.6, ss.357-364, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5152/balkanmedj.2021.21199
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, Central & Eastern European Academic Source (CEEAS), CINAHL, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.357-364
  • Erciyes Üniversitesi Adresli: Evet

Özet

Background: Cystic fibrosis, a pulmonary disease which is an autosomal recessive, inherited, multisystemic genetic disease commonly seen in the Caucasian race, is the most frequent cause of mortality and morbidity. So far, more than 2000 disease-causing gene variants have been found and this number has been increasing with the studies conducted. Although there is not yet enough data that include the Turkish population, the recent increase of studies is noteworthy.