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Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation

BACKGROUND: Cystic fibrosis (CF) is a multisystemic chronic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. These mutations are classified in to six classes. Ivacaftor is a CFTR potentiator which partially restores the CFTR function for class II...

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Detalles Bibliográficos
Autores principales: Al Oraimi, Sumaya, Mohsin, Hussain, Al Musawi, Zainab, Al Balushi, Younis, Al Shidhani, Khoula, Al Salmi, Qasem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152560/
https://www.ncbi.nlm.nih.gov/pubmed/35663785
http://dx.doi.org/10.1016/j.ijpam.2021.10.003