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Article

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Human mutation - 19 Aug 1999

Mittre H, Bahlous A, Leporrier N, Leymarie P

Abstract excerpt

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Share to Chromosomes, Human, Pair 7
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10425081
DOI: 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU13>3.0.CO;2-V

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

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.PMID 10425081Read ↗

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

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.Semantic proximity Read ↗

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

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

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

Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT.Semantic proximity Read ↗

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.Semantic proximity Read ↗

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

Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.Semantic proximity Read ↗

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

A novel mutation (G1249R) in exon 20 of the CFTR gene.Semantic proximity Read ↗

A cystic fibrosis patient homozygous for the nonsense mutation R553X.Semantic proximity Read ↗

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