Article
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line.
Nature medicine - 1 Nov 1997
Bedwell D M, Kaenjak A, Benos D J, Bebok Z, Bubien J K, Hong J, Tousson A, Clancy J P, Sorscher E J
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) protein. While 70% of CF chromosomes carry a deletion of the phenylalanine residue 508 (deltaF508) of CFTR, roughly 5% of all CF chromosomes carry a premature stop mutation. We reported that the amino...
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