The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients.

Background: 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.

Methods: We identified CFTR mutations in a representative cohort of CF patients comprising of Albanian patients and some Kosovo patients followed up by the Department of Pediatrics at the University Hospital Center "Mother Theresa" (UHCMT).