G970R‐CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect

In previous work, participants with a G970R mutation in cystic fibrosis transmembrane conductance regulator (CFTR) (c.2908G>C) had numerically lower sweat chloride responses during ivacaftor treatment than participants with other CFTR gating mutations. The objective of this substudy was to charac...

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Detalles Bibliográficos
Autores principales: Fidler, Meredith C., Buckley, Alexandra, Sullivan, James C., Statia, Marvin, Boj, Sylvia F., Vries, Robert G. J., Munck, Anne, Higgins, Mark, Moretto Zita, Matteo, Negulescu, Paul, van Goor, Fredrick, De Boeck, Kris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7993255/
https://www.ncbi.nlm.nih.gov/pubmed/33278322
http://dx.doi.org/10.1111/cts.12927

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7993255/
https://www.ncbi.nlm.nih.gov/pubmed/33278322
http://dx.doi.org/10.1111/cts.12927

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