Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants
Abstract Background Cystic fibrosis (CF) is a multi-system disease caused by CFTR dysfunction. Genetic defects in the CFTR protein cause impaired chloride and bicarbonate secretion on the apical surface of epithelial cells throughout the body. Classically, the diagnosis of CF is established based on...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
BMC
2025-11-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-04145-w |
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