Article
Multiple origins for phenylketonuria in Europe.
American journal of human genetics - 1 Dec 1992
Eisensmith R C, Okano Y, Dasovich M, Wang T, Güttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki D S, Svensson E
Abstract excerpt
Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). PKU is a highly heterogeneous disorder, with more than 60 molecular lesions identified in the PAH gene. The haplotype associations, relative frequencies, and distributions of five prevalent PAH mutations (R158Q,...
Topics
- Europe
- Gene Frequency
- Haplotypes
- Humans
- Mutation
- Phenylketonurias
- Polymorphism, Restriction Fragment Length