Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report

BACKGROUND: Ivacaftor acts as a potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) and increases the transepithelial chloride transport of CFTR in 9 of 10 known gating mutations causing cystic fibrosis. S549R is a rare gating mutation considered to be less sensitive to pot...

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Detalles Bibliográficos
Autores principales: Lenherr, Nina, Lurà, Marco, Trachsel, Daniel, Latzin, Philipp, Hammer, Juerg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609097/
https://www.ncbi.nlm.nih.gov/pubmed/26474553
http://dx.doi.org/10.1186/s12890-015-0120-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609097/
https://www.ncbi.nlm.nih.gov/pubmed/26474553
http://dx.doi.org/10.1186/s12890-015-0120-1

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