Article
[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics].
Rinsho byori. The Japanese journal of clinical pathology - 1 Nov 1994
Takarada Y, Yamashita K, Kalanin J, Kagawa S, Matsuoka A
Abstract excerpt
Direct sequencing was conducted on the regions of the exon 7 and 12 in the phenylalanine hydroxylase (PAH) gene amplified by the polymerase chain reaction, using solid-phase technology involving the biotin streptavidin system. A novel mutation and seven previously known mutations were identified in the PAH genes among 15 Caucasians and 10 Gypsies in the Czech and Slovakia republics, affected with classical...
Topics
- Base Sequence
- Czech Republic
- Female
- Genetics, Population
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction