Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and
its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and …

Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is
caused by mutations in the gene encoding for the CF transmembrane conductance regulator …

The combination therapies ORKAMBITM and TRIKAFTATM are approved for people who
have the F508del mutation on at least one allele. In this study we examine the effects of …

Abstract Background The c. 3700A> G mutation, a rare cystic fibrosis (CF)-causing CFTR
mutation found mainly in the Middle East, produces full-length transcript encoding a …

Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations,
but pathogenic risk variants that cause SGDs are typically population-private. The goal was …

Cystic fibrosis is a genetic disorder caused by a Cystic Fibrosis Transmembrane
Conductance Regulator (CFTR) gene defect. Many across the globe suffer the debilitating …

Background This study presents an updated report on the epidemiology of cystic fibrosis
(CF) in the Arab region. Objectives It provides a comprehensive review of existing …

We report two cases of Qatari children with cystic fibrosis (CF) from different families
presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic …

Background The cystic fibrosis transmembrane conductance regulator (CFTR) mutation
I1234V (I1234V, p. Ile1234Val, c. 3700A> G), is a missense-mutation that creates a cryptic …

Chronic airway colonization by bacteria and fungi is very common in CF patients, causing
irreversible lung damage. It is known that rates of fungal infections are much lower than …