Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T)

Cystic fibrosis (CF) is a common autosomal recessive disorder which is mainly found in Caucasians but has also been reported in Asian populations. CF is primarily caused by mutations in the CFTR gene which regulates the transport of chloride ions across the cell membrane. We describe the cases of tw...

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Detalles Bibliográficos
Autores principales: Hafiz, Sumaiya, Al Qassimi, Sarah, Isse, Said, Wahla, Ali Saeed, El-Kaissi, Mahmoud, Uzbeck, Mateen, Shafiq, Irfan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930882/
https://www.ncbi.nlm.nih.gov/pubmed/36819652
http://dx.doi.org/10.12890/2023_003728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930882/
https://www.ncbi.nlm.nih.gov/pubmed/36819652
http://dx.doi.org/10.12890/2023_003728

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