Article
[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].
Casopis lekaru ceskych - 14 Jun 1995
Kozák L, Kuhrová V, Blazková M, Fajkusová L, Dvoráková D, Pijácková A
Abstract excerpt
BACKGROUND: Phenylketonuria is as regards the genotype a very heterogenous disease. Successful prenatal and postnatal DNA diagnosis calls for knowledge of different mutations in a given population. The objective of the investigation was to introduce direct detection of 21 mutations in the gene fo...
Topics
- Genotype
- Humans
- Infant, Newborn
- Mutation
- Neonatal Screening
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction