Article
A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.
European journal of pediatrics - 1 Mar 1991
Okano Y, Eisensmith R C, Dasovich M, Wang T, Güttler F, Woo S L
Abstract excerpt
A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of a Danish patient with hyperphenylalaninaemia (HPA). An A-to-G transition at the second base of codon 414 results in the substitution of Cys for Tyr in the mutant PAH protein. In in vitro expression studies, the Tyr414-to-Cys414 mutant construct produced a protein which exhibited a significant amount of normal PAH enzyme...
Topics
- Alleles
- Chromosomes, Human, Pair 3
- Chromosomes, Human, Pair 4
- Denmark
- Europe
- Humans
- Mutation
- Phenylketonurias
- White People