Abstract
Objectives: Cystic fibrosis (CF) is lifelong, life-threatening inherited disorder with autosomal recessive pattern. Pathogenic mutation(s) in cystic fibrosis transmembrane conductance regulator (CFTR) gene cause CF disease. The CFTR gene encodes ion transport channel that regulates homeostasis around epithelial cells, and malformed channel may root multisystemic clinical complications ranging from respiratory to digestive disorders. CF disease has long been considered Caucasian’s disease but from few decades, its prevalence has also been reported in almost all populations including Asian countries. There is insufficient literature on CFTR mutational spectrum of Pakistani population, and it is the dire need to study the CFTR gene’s genomic mutations in word’s fifth most populous country Pakistan.
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