Article
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes.
Human heredity - 1 Jan 2000
Santos M, Kuzmin A I, Eisensmith R C, Goltsov A A, Woo S L, Barrantes R, de Céspedes C
Abstract excerpt
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the previously reported European mutations IVS1nt5, L48S, E221G and IVS12ntl as well...
Topics
- Child
- Costa Rica
- Haplotypes
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Genetic