Article
Strategies for correcting the delta F508 CFTR protein-folding defect.
Journal of bioenergetics and biomembranes - 1 Oct 1997
Brown C R, Hong-Brown L Q, Welch W J
Abstract excerpt
Many human diseases arise as a result of mutations within genes encoding essential proteins. In many cases, the mutations are not so severe as to render the protein biologically inactive. Rather, the mutations oftentimes result in only subtle protein-folding abnormalities. In the case of the CFTR protein, a mutation leading to the loss of a single amino acid is responsible for the diseased state in the majority...
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