Article
Cystic fibrosis transmembrane regulator correctors and potentiators.
Cold Spring Harbor perspectives in medicine - 1 Jul 2013
Rowe Steven M, Verkman Alan S
Abstract excerpt
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) protein, a cAMP-regulated anion channel expressed primarily at the apical plasma membrane of secretory epithelia. Nearly 2000 mutations in the CFTR gene have been identified that cause disease by impairing its translation, cellular processing, and/or chloride channel gating. The fundamental premise of...
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