Article
[Molecular genetic aspects of phenylketonuria (PKU)].
Tijdschrift voor kindergeneeskunde - 1 Jun 1991
Giltay J C, van Hoef A M, de Weger R, Duran M, Berger R, Beemer F A
Abstract excerpt
In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes...
Topics
- Haplotypes
- Humans
- Mutagenicity Tests
- Mutation
- Oligonucleotide Probes
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length