Article
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.
Molecular genetics and metabolism - 1 Mar 2000
Sarkissian C N, Boulais D M, McDonald J D, Scriver C R
Abstract excerpt
Hyperphenylalaninemias (HPA) are Mendelian disorders resulting from deficiencies in the conversion of phenylalanine to tyrosine. The vast majority are explained by a primary deficiency of phenylalanine hydroxylase (PAH) activity. The majority of untreated patients experience irreversible impairment of cognitive development. Although it is one of the best known hereditary metabolic disorders, mechanisms underlying...
Topics
- Alleles
- Animals
- Behavior, Animal
- Blotting, Western
- Disease Models, Animal
- Female
- Genotype
- Humans
- Liver
- Male
- Mental Disorders
- Mice