An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar

Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving the CFTR I1234V mutation and to provide recommendations for future research activities. The prevalence rates of CFTR mutations vary across the globe. The CFTR I1234V mutation is the most common...