Article
Spectrum and origin of phenylketonuria mutations in Spain.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994
Pérez B, Desviat L R, De Lucca M, Ugarte M
Abstract excerpt
In order to characterize the molecular heterogeneity of phenylalanine hydroxylase deficiencies in the Spanish population, 37 PKU patients were initially screened for 16 known European mutations. For the remaining unidentified alleles, we used a combined strategy based on single strand conformation polymorphism analysis and DNA sequencing. Overall, a total of 15 different mutations were found in our sample, which...
Topics
- DNA Mutational Analysis
- Gene Frequency
- Genetic Testing
- Haplotypes
- Humans
- Minisatellite Repeats
- Mutation
- Phenylketonurias
- Polymorphism, Genetic
- Prevalence
- Spain