Article
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
American journal of human genetics - 1 Feb 1999
Wohlers T M, Christacos N C, Harreman M T, Fridovich-Keil J L
Abstract excerpt
Epimerase-deficiency galactosemia results from impairment of the human enzyme UDP-galactose-4-epimerase (hGALE). We and others have identified substitution mutations in the hGALE alleles of patients with the clinically mild, peripheral form of epimerase deficiency. We report here the first identi...
Topics
- Alleles
- Amino Acid Substitution
- Enzyme Stability
- Female
- Galactosemias
- Gene Expression Regulation
- Homozygote
- Humans
- Male
- Methionine
- Mutation
- NAD
- Pedigree
- UDPglucose 4-Epimerase
- Uridine Diphosphate N-Acetylgalactosamine
- Valine
- Yeasts