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Article

The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.

The European respiratory journal - 1 Mar 2005

Duguépéroux I, De Braekeleer M

Abstract excerpt

Most cystic fibrosis (CF) transmembrane receptor mutations are rare. The French CF Registry offers an opportunity to study the genotype-phenotype relationship of these rare alleles. Since 1992, 39 CF patients carrying one copy of the 3849+10kbC->T mutation and 88 the 2789+5G->A allele have been seen at least once in a CF care centre. Among them, 16 carrying the 3849+10kbC->T/Delta F508 genotype and 34 with the...

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Identifiers

PMID: 15738290
DOI: 10.1183/09031936.05.10100004

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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