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Article

Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.

Genomics - 1 Apr 1992

Graham C A, Goon P K, Hill A J, Nevin N C

Abstract excerpt

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Topics

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Share to Base Sequence
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Share to Chromosome Deletion
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

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Share to Membrane Proteins

Share to Molecular Sequence Data

Source

Identifiers

PMID: 1374052
DOI: 10.1016/0888-7543(92)90327-o

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

Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.PMID 1374052Read ↗

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

Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.Semantic proximity Read ↗

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.Semantic proximity Read ↗

Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.Semantic proximity Read ↗

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

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 ↗

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

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

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

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