Article
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.
Human genetics - 1 Oct 1995
Kozák L, Kuhrová V, Blazková M, Romano V, Fajkusová L, Dvoráková D, Pijácková A
Abstract excerpt
A detailed study of the mutant phenylalanine hydroxylase (PAH) gene from the eastern part of the Czech Republic (Moravia) is reported. A total of 190 mutant alleles from 95 phenylketonuria (PKU) families were analyzed for 21 prevalent Caucasian mutations and restriction fragment length polymorphism/variable number of tandem repeats (RFLP/VNTR) haplotypes. Eighty per cent of all mutant alleles were found to carry...
Topics
- Base Sequence
- Czech Republic
- DNA Mutational Analysis
- Genotype
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Phenylketonurias
- Polymorphism, Restriction Fragment Length