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Mutation-specific downregulation of CFTR2 variants by gating potentiators

Approximately 50% of cystic fibrosis (CF) patients are heterozygous with a rare mutation on at least one allele. Several mutants exhibit functional defects, correctable by gating potentiators. Long-term exposure (≥24 h) to the only available potentiator drug, VX-770, leads to the biochemical and fun...

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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: Avramescu, Radu G, Kai, Yukari, Xu, Haijin, Bidaud-Meynard, Aurélien, Schnúr, Andrea, Frenkiel, Saul, Matouk, Elias, Veit, Guido, Lukacs, Gergely L
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886047/
https://ncbi.nlm.nih.gov/pubmed/29040544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx367
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