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Article

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Dec 2012

Scott Alexandra, Petrykowska Hanna M, Hefferon Timothy, Gotea Valer, Elnitski Laura

Abstract excerpt

BACKGROUND: Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 1800 CFTR mutations have been reported, and about 12% of mutations are believed to impair pre-mRNA splicing. Given that several synthetic, non-splice-junction synonymous substitutions have been reported to alter splicing in CFTR, we predicted that naturally occurring synonymous...

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Identifiers

PMID: 22591852
DOI: 10.1016/j.jcf.2012.04.009
PMCID: PMC3440543

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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