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Article

Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

American journal of human genetics - 1 Nov 1991

Brooks C C, Buist N, Tuerck J, Tolan D R

Abstract excerpt

Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of the aldolase B gene from one HFI patient were amplified by PCR. Dot-blot hybridization of the...

Topics

Adolescent
Base Sequence
Deoxyribonucleotides
Female
Fructose Intolerance
Fructose-Bisphosphate Aldolase
Heterozygote
Humans
Infant, Newborn
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

RNA Splicing

Source

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Identifiers

PMID: 1928090
PMCID: PMC1683262

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1928090-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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