Article
Molecular analysis of aldolase B genes in hereditary fructose intolerance.
Lancet (London, England) - 10 Feb 1990
Cross N C, de Franchis R, Sebastio G, Dazzo C, Tolan D R, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G
Abstract excerpt
The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found...
Topics
- Alleles
- Child
- Child, Preschool
- Chromosome Deletion
- Europe
- Exons
- Fructose Intolerance
- Fructose Metabolism, Inborn Errors
- Fructose-Bisphosphate Aldolase
- Genotype
- Humans
- Middle Aged
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- United Kingdom
- United States