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Article

Frequency of large CFTR gene rearrangements in Italian CF patients.

European journal of human genetics : EJHG - 1 May 2005

Bombieri Cristina, Bonizzato Alberto, Castellani Carlo, Assael Baroukh M, Pignatti Pier Franco

Abstract excerpt

In most populations, an appreciable fraction of cystic fibrosis transmembrane regulator (CFTR) gene mutations in patients affected by cystic fibrosis (CF) cannot be identified, and large gene rearrangements might be missed by standard analyses. We have searched large gene rearrangements in a sample of 25 North East Italian CF patients who, after an extensive gene analysis of 188 patients, still bear one or two...

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Source

Identifiers

PMID: 15741992
DOI: 10.1038/sj.ejhg.5201387

Genes

CFTR

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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