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Article

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.

Journal of medical genetics - 1 Jul 1993

Bienvenu T, Beldjord C, Fonknechten N, Kaplan J C, Lenoir G

Abstract excerpt

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Share to Celiac Disease
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Exocrine Pancreatic Insufficiency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 7692049
DOI: 10.1136/jmg.30.7.621-c
PMCID: PMC1016479

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.PMID 7692049Read ↗

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.Semantic proximity Read ↗

The S549R (T-->G) cystic fibrosis gene mutation.Semantic proximity Read ↗

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.Semantic proximity Read ↗

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.Semantic proximity Read ↗

Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.Semantic proximity Read ↗

The pathogenic consequences of a single mutated CFTR gene.Semantic proximity Read ↗

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.Semantic proximity Read ↗

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF.Semantic proximity Read ↗

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.Semantic proximity Read ↗

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.Semantic proximity Read ↗

A cystic fibrosis patient who is homozygous for the A559T mutation.Semantic proximity Read ↗

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