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Article

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Journal of medical genetics - 1 Apr 1991

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross N C, Cox T M

Abstract excerpt

Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a base pair deletion in exon 8), and N334K (a G----C transversion in exon 9). We have investigated the occurrence of...

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Identifiers

PMID: 1856829
DOI: 10.1136/jmg.28.4.241
PMCID: PMC1016824

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Source receipt: pubmed, retrieved 7 Sept 2026.

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