References
Lin C-H, Hsiao K-J, Tsai T-F, Chao H-K, Su T-S (1992) Identification of a missense phenylketonuria mutation at codon 408 in Chinese.Hum Genet 89: 593–596.
Okano Y, Eisensmith RC, Güttler F et al (1991) Molecular basis of phenotypic heterogeneity in phenylketonuria.N Engl J Med 324: 1232–1238.
Okano Y, Hase Y, Lee D-H et al (1992) Frequency and distribution of phenylketonuria mutations in Orientals.Hum Mutat 1: 216–220.
Okano Y, Isshiki G, Hase Y, Oura T (1993) Two missense mutations of phenylketonuria in Japan by PAHcDNA analysis from cultured lymphoblast.Jpn J Hum Genet 38: A47.
Svensson E, Eisensmith RC, Dworniczak B et al (1992) Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.Hum Mutat 1: 129–137.
Wang T, Okano Y, Eisensmith R et al (1989) Molecular genetics of phenylketonuria in Orientals: Linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.Am J Hum Genet 45: 675–680.
Wang T, Okano Y, Eisensmith RC et al (1991a) Founder effect of a prevalent phenylketonuria mutation in the Oriental population.Proc Natl Acad Sci USA 88: 2146–2150.
Wang T, Okano Y, Eisensmith RC et al (1991b) Missense mutations prevalent in Orientals with phenylketonuria: Molecular characterization and clinical implications.Genomics 10: 449–456.
Wang T, Okano Y, Eisensmith RC et al (1991c) Identification of a novel phenylketonuria (PKU) mutation in the Chinese: Further evidence for multiple origins of PKU in Asia.Am J Hum Genet 48: 628–630.
Wang T, Okano Y, Eisensmith RC et al (1992) Identification of three novel PKU mutations among Chinese: Evidence for recombination or recurrent mutation at the PAH locus.Genomics 13: 230–231.
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Okano, Y., Hase, Y., Lee, D.H. et al. Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype. J Inherit Metab Dis 17, 156–159 (1994). https://doi.org/10.1007/BF00735425
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DOI: https://doi.org/10.1007/BF00735425