MINERVA PEDIATRICA, vol.67, no.5, pp.407-411, 2015 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Cystic fibrosis transmembrane conductance regulator, Mutation, Cystic fibrosis, Genetics, MUTATIONS, IDENTIFICATION, CHROMOSOMES
Dokuz Eylül University Affiliated:
Aim. Common mutation detection panels are usually used in clinical practice in most of the centers of our country in order to demonstrate mutations of cystic fibrosis (CF) patients. But heterogenicity of CFTR mutations in Turkey makes identification of CFTR mutations extremely difficult while using common mutation detection panels.