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

doi:10.1096/fasebj.8.1.8299883

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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...

Topics

Alleles
Base Sequence
DNA Mutational Analysis
DNA Primers
Exons
Female
Fructose Intolerance
Fructose-Bisphosphate Aldolase
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Genetic

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