Partial aldolase B gene deletions in hereditary fructose intolerance.

Abstract excerpt

Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this paper we define three new lesions in the aldolase B gene: two are large deletions, one of 1.65 kb and one of 1.4 kb;...

Topics

• Base Sequence
• Blotting, Southern
• Chromosome Deletion
• DNA Probes
• Fructose Intolerance
• Fructose Metabolism, Inborn Errors
• Fructose-Bisphosphate Aldolase
• Humans
• Molecular Sequence Data
• Mutation
• Restriction Mapping