Article
Genetic background of clinical homogeneity of phenylketonuria in Poland.
Journal of medical genetics - 1 Mar 1993
Jaruzelska J, Matuszak R, Lyonnet S, Rey F, Rey J, Filipowicz J, Borski K, Munnich A
Abstract excerpt
In order to elucidate the clinical homogeneity and severity of the hyperphenylalaninaemias in Poland, a total of 71 children with typical phenylketonuria (PKU) originating from western and northern Poland were screened for 13 mutations in the phenylalanine hydroxylase (PAH) gene. Eighty percent of all PKU alleles tested were found to carry an identified mutation. One mutation, namely the R408W mutation, accounted...
Topics
- Base Sequence
- Genetic Testing
- Genetics, Population
- Haplotypes
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Phenylalanine Hydroxylase
- Phenylketonurias