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Article

Frequency and distribution of phenylketonuric mutations in Orientals.

Human mutation - 1 Jan 1992

Okano Y, Hase Y, Lee D H, Furuyama J, Shintaku H, Oura T, Isshiki G

Abstract excerpt

The frequency and distribution of eight mutations (R111X, IVS4nt-1, Y204C, R243Q, IVS7nt-2, W326X, Y356X, and R413P) in the phenylalanine hydroxylase gene of Orientals in Japan and Korea were examined by allele-specific oligonucleotide hybridization. The mutant alleles comprised 54 and 55% of the phenylketonuria (PKU) chromosomes examined in 36 patients in Japan and 10 patients in Korea, respectively. The...

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Identifiers

PMID: 1301927
DOI: 10.1002/humu.1380010307

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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