Article
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
Human mutation - 1 Jan 1998
Popescu T, Blazkova M, Kozak L, Jebeleanu G, Popescu A
Abstract excerpt
The mutation spectrum and polymorphic haplotype background in 22 Romanian families have been analysed in this study using the restriction digestion of phenylalanine hydroxylase (PAH) regions specifically amplified or the DGGE/direct sequencing methods. Eleven PAH mutations specifically associated with six mutant haplotypes were detected. In spite of the relative heterogeneity of the molecular defects in the PAH...
Topics
- Adult
- Alleles
- Child
- DNA Mutational Analysis
- Female
- Humans
- Male
- Minisatellite Repeats
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length
- Romania