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Identification of Compounds That Promote Readthrough of Premature Termination Codons in the CFTR

Cystic fibrosis (CF) is caused by a mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which disrupts an ion channel involved in hydration maintenance via anion homeostasis. Nearly 5% of CF patients possess one or more copies of the G542X allele, which results in a stop...

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Detalles Bibliográficos
Autores principales: Smith, Emery, Dukovski, Danijela, Shumate, Justin, Scampavia, Louis, Miller, John P., Spicer, Timothy P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838340/
https://www.ncbi.nlm.nih.gov/pubmed/33016182
http://dx.doi.org/10.1177/2472555220962001