Article ; Online: Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T)
European Journal of Case Reports in Internal Medicine (2023)
2023
Abstract: 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 ... ...
| Abstract | 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 two siblings with CF diagnosed with the rare missense mutation c.80G>T, which has only been referenced once in the literature and shows a possible association with classical form of CF. |
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| Keywords | cystic fibrosis ; middle east ; cftr mutation ; c.80g>t ; Medicine ; R |
| Language | English |
| Publishing date | 2023-02-01T00:00:00Z |
| Publisher | SMC MEDIA SRL |
| Document type | Article ; Online |
| Database | BASE - Bielefeld Academic Search Engine (life sciences selection) |
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