Ontology highlight
ABSTRACT:
SUBMITTER: Ratjen F
PROVIDER: S-EPMC7041544 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Ratjen Felix F Bell Scott C SC Rowe Steven M SM Goss Christopher H CH Quittner Alexandra L AL Bush Andrew A
Nature reviews. Disease primers 20150514
Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene defect was first described 25 years ago and much progress has been made since then in our understanding of how CFTR mutations cause disease and how this can be addressed therapeutically. CFTR is a transmembrane protein that transports ions across the surface of epithelial cells. CFTR dysfunction affects many organs; however, lung dis ...[more]