Article
Molecular basis of phenotypic heterogeneity in phenylketonuria.
The New England journal of medicine - 2 May 1991
Okano Y, Eisensmith R C, Güttler F, Lichter-Konecki U, Konecki D S, Trefz F K, Dasovich M, Wang T, Henriksen K, Lou H
Abstract excerpt
BACKGROUND: Phenylketonuria is a metabolic disorder that results from a deficiency of the hepatic enzyme phenylalanine hydroxylase. Its clinical phenotype varies widely, and to date more than 10 mutations in the phenylalanine hydroxylase gene have been identified in persons with the disorder. We attempted to relate the clinical phenotype of patients to their genotype. METHODS: We studied 258 patients with...
Topics
- Alleles
- Denmark
- Gene Expression Regulation, Enzymologic
- Germany
- Humans
- Mutation
- Nucleic Acid Hybridization
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias