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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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מידע ביבליוגרפי
Main Authors: D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2004
נושאים:
גישה מקוונת: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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