Article
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations.
Nature medicine - 1 Apr 1996
Howard M, Frizzell R A, Bedwell D M
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR). A single recessive mutation, the deletion of phenylalanine 508 (deltaF508), causes severe CF and resides on 70% of mutant chromosomes. Severe CF is also caused by premature stop mutations, which are found on 5% of CF chromosomes. Here we report that two common, disease-associated stop mutations can...
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