Article
Mouse models of human phenylketonuria.
Genetics - 1 Aug 1993
Shedlovsky A, McDonald J D, Symula D, Dove W F
Abstract excerpt
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine (PHE) to tyrosine. Although this inborn error of metabolism was among the first in humans to be understood biochemically and genetically, little is known of the mech...
Topics
- Animals
- Blotting, Western
- Cross Reactions
- Diet
- Disease Models, Animal
- Genotype
- Humans
- Mice
- Mutagenesis
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
