Article
Mutation analysis of phenylketonuria in Yamagata prefecture, Japan.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2001
Kimura T, Ikeda H, Akaba K, Guldberg P, Güttler F, Maki K, Aikawa S, Hayasaka K
Abstract excerpt
BACKGROUND: We have screened 309,914 newborns in Yamagata prefecture, Japan, since 1977 and have detected four patients with phenylketonuria (PKU). We analyzed the phenylalanine hydroxylase (PAH) gene of the four patients to study the genetic background in this area and the genotype-phenotype relationship in these patients. METHODS: Mutations of the PAH gene were screened by denaturing gradient gel...
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