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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...

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Detalhes bibliográficos
Main Authors: D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC419352/
https://ncbi.nlm.nih.gov/pubmed/15084222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-5-8
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