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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...
Gorde:
| Argitaratua izan da: | J Pers Med |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2021
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8071105/ https://ncbi.nlm.nih.gov/pubmed/33920764 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm11040301 |
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