Open AccessThe Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey
Author(s) -
Murat Erdoğan,
Mehmet Köse,
Sevgi Pekcan,
Melih Hangül,
Burhan Balta,
Aslıhan Kiraz,
Gizem Akıncı Gönen,
Ayşe Gül Zamanı,
Mahmut Selman Zamani,
Tuğba Ramaslı Gürsoy,
Fatih Süheyl Ezgü,
Tuğba Şişmanlar Eyüpoğlu,
Ayşe Tana Aslan
Publication year - 2021
Publication title -
balkan medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.398
H-Index - 16
eISSN - 2146-3131
pISSN - 2146-3123
DOI - 10.5152/balkanmedj.2021.21199
Subject(s) - multiplex ligation dependent probe amplification , cystic fibrosis , sanger sequencing , exon , medicine , turkish population , genetics , cystic fibrosis transmembrane conductance regulator , mutation , gene , population , genotype , pathology , biology , environmental health
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.