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Article

Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.

Genetic testing - 1 Jan 2005

Stanziale Pietro, Savino Maria, De Bonis Patrizia, Granatiero Matteo, Zelante Leopoldo, Bisceglia Luigi

Abstract excerpt

Mutations of CFTR gene are responsible for cystic fibrosis (CF) and other clinical conditions such as congenital absence of the vas deferens (CAVD), chronic pancreatitis (IP), and idiopathic disseminated bronchiectasis (DBE) classified as CFTR-related disorders. The PCR/OLA assay is designed to detect 31 known mutations including the 24 most common CF mutations worldwide, as identified by the CF Consortium. In...

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Identifiers

PMID: 16379540
DOI: 10.1089/gte.2005.9.285

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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