Article
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
Archives francaises de pediatrie - 1 Oct 1992
Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray J M, Munnich A, Rey J
Abstract excerpt
BACKGROUND: Several mutations in the human phenylalanine hydroxylase (PAH) gene have been described and it may be interesting to tentatively correlate mutant genotypes and clinical phenotypes of phenylketonuria (PKU). METHODS: Twelve mutations were searched for using classical techniques of molecular biology in a total of 126 patients. 3 phenotypes were arbitrarily defined: typical PKU, atypical PKU or...
Topics
- Child
- DNA Mutational Analysis
- Humans
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias