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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Bibliographische Detailangaben
Hauptverfasser: D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2004
Schlagworte:
Technical Advance
Online Zugang: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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