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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
BACKGROUND: Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male in...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2004
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC419352/ https://www.ncbi.nlm.nih.gov/pubmed/15084222 http://dx.doi.org/10.1186/1471-2350-5-8 |