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Article

Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

American journal of human genetics - 1 Sept 1990

Kajihara S, Mukai T, Arai Y, Owada M, Kitagawa T, Hori K

Abstract excerpt

The nucleotide sequence of a patient's aldolase B gene was determined and showed a substitution of a single nucleotide (C----A) at position 720 in the coding region, which resulted in the 240th amino acid, a cysteine, being changed to a stop codon (TGC----TGA). By an allele-specific oligonucleoti...

Topics

Base Sequence
Cloning, Molecular
Codon
Escherichia coli
Female
Fructose Intolerance
Fructose Metabolism, Inborn Errors
Fructose-Bisphosphate Aldolase
Genes
Homozygote
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2203259
PMCID: PMC1683875

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2203259-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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