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Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Human mutation - 1 Jul 2014

Hinzpeter Alexandre, de Becdelièvre Alix, Bieth Eric, Gameiro Christine, Brémont François, Martin Natacha, Costes Bruno, Costa Catherine, Aissat Abdel, Lorot Aurélie, Prulière-Escabasse Virginie, Goossens Michel, Fanen Pascale, Girodon Emmanuelle

Abstract excerpt

Cystic fibrosis may be revealed by nasal polyposis (NP) starting early in life. We performed cystic fibrosis transmembrane conductance regulator (CFTR) DNA and mRNA analyses in the family of a 12-year-old boy presenting with NP and a normal sweat test. Routine DNA analysis only showed the heterozygous c.2551C>T (p.Arg851*) mutation in the child and the father. mRNA analysis showed partial exon skipping due to...

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Identifiers

PMID: 24633926
DOI: 10.1002/humu.22548

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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Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.PMID 24633926Read ↗

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