Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects

Background. The most common CFTR mutation, F508del, presents with multiple cellular defects. However, the possible multiple defects caused by many rarer CFTR mutations are not well studied. We investigated four rare CFTR mutations E60K, G85E, E92K and A455E against well-characterized mutations, F508...

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Detalles Bibliográficos
Autores principales: Ensinck, Marjolein, De Keersmaecker, Liesbeth, Heylen, Lise, Ramalho, Anabela S., Gijsbers, Rik, Farré, Ricard, De Boeck, Kris, Christ, Frauke, Debyser, Zeger, Carlon, Marianne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140603/
https://www.ncbi.nlm.nih.gov/pubmed/32204475
http://dx.doi.org/10.3390/cells9030754

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