Article
The human galactose-1-phosphate uridyltransferase gene.
Genomics - 1 Oct 1992
Leslie N D, Immerman E B, Flach J E, Florez M, Fridovich-Keil J L, Elsas L J
Abstract excerpt
Classical galactosemia is an inborn error of metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Standard treatment with dietary galactose restriction will reverse the potentially lethal symptoms of the disease that are manifest in the newborn period. However, the...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Line
- DNA
- Galactosemias
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Restriction Mapping
- Sequence Homology, Amino Acid
- UTP-Hexose-1-Phosphate Uridylyltransferase