Article
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.
European journal of pediatrics - 1 Jul 1995
Guldberg P, Mikkelsen I, Henriksen K F, Lou H C, Güttler F
Abstract excerpt
UNLABELLED: Mutations in the gene encoding phenylalanine hydroxylase (PAH) cause persistent hyperphenylalaninaemia. To date, more than 200 point mutations and microdeletions have been characterized. Each mutation has a particular quantitative effect on enzyme activity and recessive expression of...
Topics
- Alleles
- DNA Mutational Analysis
- Female
- Gene Expression Regulation, Enzymologic
- Genetic Testing
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Point Mutation