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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...

Topics

Alleles
Biopsy
DNA
DNA Primers
Fructose Intolerance
Fructose-Bisphosphate Aldolase
Genotype
Humans
Liver
Mutation
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Oligonucleotides

Prevalence

United States

Source

Open in PubMed Open full text

Identifiers

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

Genes

ALDOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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