Article
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
American journal of human genetics - 1 Oct 1991
Reichardt J K, Packman S, Woo S L
Abstract excerpt
Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or un...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Escherichia coli
- Female
- Galactosemias
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Saccharomyces cerevisiae
- Sequence Alignment
- UTP-Hexose-1-Phosphate Uridylyltransferase