Article
Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
American journal of human genetics - 1 Aug 1995
Desviat L R, Pérez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M
Abstract excerpt
Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and has 43% residual activity, which correlates well with the mild phenotype exhibited by the homozygous patients. In Spain it has been detected in 5.7% of the mutant alleles and is always associated with haplotype 1.7. This mutation is also...
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- Genetic Heterogeneity
- Humans
- Latin America
- Minisatellite Repeats
- Molecular Sequence Data
- Phenylketonurias
- Polymorphism, Genetic
- Recurrence