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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SMC Media Srl
2023
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| Materias: | |
| 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 |