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Article

Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

Journal of medical genetics - 1 Jun 1994

Ali M, Tunçman G, Cross N C, Vidailhet M, Bökesoy I, Gitzelmann R, Cox T M

Abstract excerpt

We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish pedigree and R59op (C-->T, Arg59-->ter, exon 3) was found on one allele in a woman of Austrian origin known to harbour...

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Identifiers

PMID: 8071980
DOI: 10.1136/jmg.31.6.499
PMCID: PMC1049933

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Source receipt: pubmed, retrieved 7 Sept 2026.

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