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• W2102496493 abstract "<h2>Summary</h2> Cystic fibrosis is caused by dysfunction or deficiency of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, an epithelial chloride channel that has a key role in maintaining homoeostasis of the airway surface liquid layer in the lungs. More than 1900 <i>CFTR</i> mutations that might result in a disease phenotype have been identified; these can be grouped into classes on the basis of their effect on CFTR protein production, trafficking, function, and stability. In the past 2 years, landmark clinical trials have shown that correction of CFTR function leads to substantial clinical benefit for individuals with cystic fibrosis. These findings are ushering in a new era of cystic fibrosis treatments designed to correct the underlying CFTR defect caused by different mutation classes. With analysis of continuing trials and available patient registries, here we assess mutation types and the number and geographical distribution of patients who are likely to benefit from CFTR-correcting treatment." @default.
• W2102496493 created "2016-06-24" @default.
• W2102496493 creator A5066275742 @default.
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• W2102496493 date "2013-04-01" @default.
• W2102496493 modified "2023-09-30" @default.
• W2102496493 title "A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect" @default.
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• W2102496493 doi "https://doi.org/10.1016/s2213-2600(12)70057-7" @default.
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