CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

The chloride channel dysfunction caused by deleterious cystic fibrosis transmembrane conductance regulator (CFTR) variants generally correlates with severity of cystic fibrosis (CF). However, 3 adults bearing the common severe variant p.Phe508del (legacy: F508del) and a deletion variant in an ivacaf...

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Detalles Bibliográficos
Autores principales: Raraigh, Karen S., Paul, Kathleen C., Goralski, Jennifer L., Worthington, Erin N., Faino, Anna V., Sciortino, Stanley, Wang, Yiting, Aksit, Melis A., Ling, Hua, Osorio, Derek L., Onchiri, Frankline M., Patel, Shivani U., Merlo, Christian A., Montemayor, Kristina, Gibson, Ronald L., West, Natalie E., Thakerar, Amita, Bridges, Robert J., Sheppard, David N., Sharma, Neeraj, Cutting, Garry R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8986068/
https://www.ncbi.nlm.nih.gov/pubmed/35315358
http://dx.doi.org/10.1172/jci.insight.148841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8986068/
https://www.ncbi.nlm.nih.gov/pubmed/35315358
http://dx.doi.org/10.1172/jci.insight.148841

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