The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

Abstract

Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present a CFTR mutation analysis among the Albanian population and to identify rare variants.

Keywords

• cftr
• cohort
• variants
• modulatory
• neonatal