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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 oligonucleotide probe and polymerase chain reaction, the patient was shown to be homozygous for the mutation. To examine whether...

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Identifiers

PMID: 2203259
PMCID: PMC1683875

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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.

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