Article
Managing the underlying cause of cystic fibrosis: a future role for potentiators and correctors.
Paediatric drugs - 1 Oct 2013
Galietta Luis J V
Abstract excerpt
Cystic fibrosis (CF), a severe genetic disease, is caused by mutations that alter the structure and function of CFTR, a plasma membrane channel permeable to chloride and bicarbonate. Defective anion transport in CF irreversibly damages the lungs, pancreas, liver, and other organs. CF mutations cause loss of CFTR function in multiple ways. In particular, class 3 mutations such as p.Gly551Asp strongly decrease the...
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