Article
Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.
PloS one - 1 Jan 2020
Ivey Gabrianne, Youker Robert T
Abstract excerpt
Cystic Fibrosis (CF) is an inherited disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) ion channel. Mutations in CFTR cause impaired chloride ion transport in the epithelial tissues of patients leading to cardiopulmonary decline and pancreatic insufficiency in the most severely affected patients. CFTR is composed of twelve membrane-spanning domains, two...
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