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Article

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Journal of inherited metabolic disease - 1 Feb 2010

Coffee Erin M, Yerkes Laura, Ewen Elizabeth P, Zee Tiffany, Tolan Dean R

Abstract excerpt

Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant alleles can differ by population. Here, 153 American HFI patients with 268 independent alleles were analyzed to identify the...

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Identifiers

PMID: 20033295
DOI: 10.1007/s10545-009-9008-7
PMCID: PMC2954661

Genes

ALDOB

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.

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