Skip to main content
Log in

Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype

  • Korean IEM Workshop 1993
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

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.

    Google Scholar 

  • Okano Y, Eisensmith RC, Güttler F et al (1991) Molecular basis of phenotypic heterogeneity in phenylketonuria.N Engl J Med 324: 1232–1238.

    Google Scholar 

  • Okano Y, Hase Y, Lee D-H et al (1992) Frequency and distribution of phenylketonuria mutations in Orientals.Hum Mutat 1: 216–220.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00735425

Keywords

Navigation