The silent codon change I507-ATC→ATT contributes to the severity of the ΔF508 CFTR channel dysfunction

The most common disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is the out-of-frame deletion of 3 nucleotides (CTT). This mutation leads to the loss of phenylalanine-508 (ΔF508) and a silent codon change (SCC) for isoleucine-507 (I507-ATC→ATT). ΔF508 C...

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Autori principali: Lazrak, Ahmed, Fu, Lianwu, Bali, Vedrana, Bartoszewski, Rafal, Rab, Andras, Havasi, Viktoria, Keiles, Steve, Kappes, John, Kumar, Ranjit, Lefkowitz, Elliot, Sorscher, Eric J., Matalon, Sadis, Collawn, James F., Bebok, Zsuzsanna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Federation of American Societies for Experimental Biology 2013
Soggetti:
Research Communications
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4046180/
https://ncbi.nlm.nih.gov/pubmed/23907436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.13-227330
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