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Article

Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.

American journal of human genetics - 1 Nov 1992

Macek M, Ladanyi L, Bürger J, Reis A

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Share to Base Sequence
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Heterozygote

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

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Share to Molecular Sequence Data

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Identifiers

PMID: 1384326
PMCID: PMC1682853

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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.

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Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.PMID 1384326Read ↗

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

Evolution of the delta F508 CFTR mutation.Semantic proximity Read ↗

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Benign missense variations in the cystic fibrosis gene.Semantic proximity Read ↗

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

A hypothesis regarding the origin and spread of the cystic fibrosis mutation deltaF508.Semantic proximity Read ↗

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.Semantic proximity Read ↗

A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein.Semantic proximity Read ↗

A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.Semantic proximity Read ↗

Effects of the delta F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR.Semantic proximity Read ↗

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