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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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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2017
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| Assuntos: | |
| Acesso em linha: | 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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