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Article

Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT.

Acta paediatrica (Oslo, Norway : 1992) - 1 Oct 1995

Schaedel C, Schwartz M, Kornfält R, Holmberg L

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Topics

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Share to Child, Preschool
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8563237
DOI: 10.1111/j.1651-2227.1995.tb13526.x

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT.PMID 8563237Read ↗

Missense variation of the CFTR gene codon 507.Semantic proximity Read ↗

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.Semantic proximity Read ↗

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

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

Identification of the L927P and delta L1260 mutations in the CFTR gene.Semantic proximity Read ↗

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.Semantic proximity Read ↗

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

Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report.Semantic proximity Read ↗

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

CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A>G mutationSemantic proximity Read ↗

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

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

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