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Article

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders.

The Journal of molecular diagnostics : JMD - 1 May 2013

Giordano Sonia, Amato Felice, Elce Ausilia, Monti Maria, Iannone Carla, Pucci Pietro, Seia Manuela, Angioni Adriano, Zarrilli Federica, Castaldo Giuseppe, Tomaiuolo Rossella

Abstract excerpt

Patients with cystic fibrosis (CF) manifest a multisystemic disease due to mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR); despite extensive testing of coding regions, a proportion of CF alleles remains unidentified. We studied 118 patients with CF and CFTR-related disorders, most with one or both unknown mutations after the scanning of CFTR coding regions, and a...

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Identifiers

PMID: 23470247
DOI: 10.1016/j.jmoldx.2013.01.001

Genes

CFTR

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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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