Article
Mutations in the phenylalanine hydroxylase gene: methods for their characterization.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994
Guldberg P, Güttler F
Abstract excerpt
Mutations in the phenylalanine hydroxylase (PAH) gene represent the root cause of PAH-deficient hyperphenylalaninemia. To date, more than 160 different mutations have been reported. Single-base substitutions and microdeletions account for the majority of molecular defects. This review provides a brief general introduction to various strategies for detection of PAH mutations, and summarizes our own methodological...
Topics
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Genetic Testing
- Humans
- Infant, Newborn
- Mutation
- Neonatal Screening
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Sensitivity and Specificity