Article
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Molecular genetics and metabolism - 1 Jan 1998
Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J
Abstract excerpt
The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of...
Topics
- Base Sequence
- Chromosome Mapping
- Cloning, Molecular
- DNA Mutational Analysis
- Galactosemias
- Gene Frequency
- Heterozygote
- Humans
- In Situ Hybridization, Fluorescence
- Molecular Sequence Data
- Mutation
- Sequence Analysis, DNA
- UDPglucose 4-Epimerase