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Article

A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 1994

Brooks C C, Tolan D R

Abstract excerpt

Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients are deficient in aldolase B, the isozyme expressed in fructose-metabolizing tissues. The eight protein coding exons, including splicing signals, of the aldolase B gene from one American HFI patient were amplified by the polymerase chain reaction (PCR). Single-strand conformational...

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PMID: 8299883
DOI: 10.1096/fasebj.8.1.8299883

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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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