Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost half of the disease-causing variants in CFTR are predicted to introduce premature termination codons (PTC) thereby causing absence of full-l...

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Detalles Bibliográficos
Autores principales: Sharma, Neeraj, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Aksit, Melis A., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhu, Han, Sangwoo T., Anzmann, Arianna F., Lam, Anh-Thu N., Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B., Raraigh, Karen S., Sosnay, Patrick R., Cotton, Calvin U., Cutting, Garry R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267994/
https://www.ncbi.nlm.nih.gov/pubmed/30444886
http://dx.doi.org/10.1371/journal.pgen.1007723

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267994/
https://www.ncbi.nlm.nih.gov/pubmed/30444886
http://dx.doi.org/10.1371/journal.pgen.1007723

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