Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. It is the most prevalent single gene disorder found worldwide that affects more than 70,000 individuals. To date more than 1500 mutations in the CFTR gene have been identified. However the functional importance of only a small number of these is known. This article is protected by copyright. All rights reserved.
Royal College of Surgeons in Ireland ->