Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTA(TM)

The rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, c.1826A > G (H609R) and c.3067_3072delATAGTG (I1023_V1024del), are associated with severe lung disease. Despite the existence of four CFTR targeted therapies, none have been approved for individuals with these mutation...

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Detalles Bibliográficos
Autores principales: Laselva, Onofrio, Ardelean, Maria C., Bear, Christine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071105/
https://www.ncbi.nlm.nih.gov/pubmed/33920764
http://dx.doi.org/10.3390/jpm11040301

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071105/
https://www.ncbi.nlm.nih.gov/pubmed/33920764
http://dx.doi.org/10.3390/jpm11040301

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