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Article

A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.

Genomics - 1 Nov 1991

White M B, Leppert M, Nielsen D, Zielenski J, Gerrard B, Stewart C, Dean M

Abstract excerpt

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Topics

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Share to Codon
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

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Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1723056
DOI: 10.1016/0888-7543(91)90092-s

Genes

CFTR
CGA

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

A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.PMID 1723056Read ↗

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.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 ↗

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

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

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.Semantic proximity Read ↗

A donor splice site mutation (1811 + 1G-->C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.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 ↗

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

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.Semantic proximity Read ↗

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

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

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