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Article

A frame-shift mutation in the cystic fibrosis gene.

Nature - 12 Apr 1990

White M B, Amos J, Hsu J M, Gerrard B, Finn P, Dean M

Abstract excerpt

Cystic fibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians. The disease causes defective regulation of chloride-ion transport in exocrine cells. Although in all CF families the disease is linked to a locus on chromosome 7q31, there is clinical heterogeneity in the severity of the disease and the age at which it is diagnosed. CF is caused by mutations in the CF...

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Source

Identifiers

PMID: 1691449
DOI: 10.1038/344665a0

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 frame-shift mutation in the cystic fibrosis gene.PMID 1691449Read ↗

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

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.Semantic proximity Read ↗

Cystic fibrosis gene.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 ↗

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.Semantic proximity Read ↗

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.Semantic proximity Read ↗

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.Semantic proximity Read ↗

The cystic fibrosis transmembrane conductance regulator gene.Semantic proximity Read ↗

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.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 ↗

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