Article
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Human genetics - 1 Feb 1994
Lin H C, Kirby L T, Ng W G, Reichardt J K
Abstract excerpt
Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity....
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Galactosemias
- Genetic Markers
- Genetic Variation
- Genotype
- Humans
- Molecular Biology
- Molecular Sequence Data
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- UTP-Hexose-1-Phosphate Uridylyltransferase