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Article

Association of 1078 del T cystic fibrosis mutation with severe disease.

Journal of medical genetics - 1 Feb 1994

Moullier P, Jéhanne M, Audrézet M P, Mercier B, Verlingue C, Quéré I, Guillermit H, Raguénès O, Storni V, Rault G

Abstract excerpt

Apart from the high frequency of the delta F508 mutation (81.81%) in Breton cystic fibrosis chromosomes, one mutation, 1078 del T, is also observed frequently (4.96%) in this group, in comparison with the rest of the French where it occurs with a frequency of 0.57%. These two mutations account for more than 86.5% of the total CF mutations identified on Breton chromosomes. We have conducted an unblinded...

Topics

Adolescent
Adult
Child
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
France
Gene Deletion
Gene Frequency
Genotype
Humans
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retrospective Studies

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Identifiers

PMID: 7514227
DOI: 10.1136/jmg.31.2.159
PMCID: PMC1049683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7514227-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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