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Article

A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.

The Journal of molecular diagnostics : JMD - 1 May 2010

Faa' Valeria, Coiana Alessandra, Incani Federica, Costantino Lucy, Cao Antonio, Rosatelli Maria Cristina

Abstract excerpt

Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even synonymous mutations can induce aberrant skipping of the mutant exon, producing nonfunctional proteins. In this paper, we describe the effect on the splicing efficiency of the synonymous variant 2811 G>T [Gly893Gly] detected in a patient of Italian descent...

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Source

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Identifiers

PMID: 20190016
DOI: 10.2353/jmoldx.2010.090126
PMCID: PMC2860476

Genes

CFTR

Provenance

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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