Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.

Objective(s): More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients.

Material And Methods: A total number of 56 documented CF patients participated in this study.