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Article

Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2011

Dujardin Gwendal, Commandeur Diane, Le Jossic-Corcos Catherine, Ferec Claude, Corcos Laurent

Abstract excerpt

BACKGROUND: Cystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing. Nevertheless, not all splicing mutations have been demonstrated, by functional assays, to affect splicing in living cells. METHODS: We have used a minigene-based approach, coupled to site-specific...

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Source

Identifiers

PMID: 21317048
DOI: 10.1016/j.jcf.2010.12.008

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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