Article
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
Journal of medical genetics - 1 Jun 1994
Ali M, Tunçman G, Cross N C, Vidailhet M, Bökesoy I, Gitzelmann R, Cox T M
Abstract excerpt
We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish...
Topics
- Alleles
- Base Sequence
- Consanguinity
- DNA Mutational Analysis
- DNA Primers
- Female
- Fructose Intolerance
- Fructose-Bisphosphate Aldolase
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Turkey