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Article

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

BMC medical genetics - 14 Apr 2004

D'Apice Maria Rosaria, Gambardella Stefano, Bengala Mario, Russo Silvia, Nardone Anna Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

Abstract excerpt

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 infertility and elevated sweat concentrations. The CFTR gene has numerous mutations (>1000) and functionally important...

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Source

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Identifiers

PMID: 15084222
DOI: 10.1186/1471-2350-5-8
PMCID: PMC419352

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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