Article
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.
Journal of inherited metabolic disease - 1 Jan 1990
Cotton R G
Abstract excerpt
The cloning of the phenylalanine hydroxylase gene and cDNA has potentially allowed the complete characterization of patients with phenylketonuria and already many mutations have been defined. Parents of patients now have the option of prenatal diagnosis. The 18 mutations defined so far indicate enormous heterogeneity not only within particular populations but also between populations. These mutations give little...
Topics
- Cloning, Molecular
- DNA
- Female
- Genetic Variation
- Humans
- Infant, Newborn
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Pregnancy
- Proteins