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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.