Skip to main content
SpringerLink
Log in

Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA

  • Short Communication — The PAH Gene
  • Published:
Journal of Inherited Metabolic Disease

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

References

  • DiLella AG, Kwok SCM, Ledly F, Marvit J, Woo SLC (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.Biochemistry 25: 743–749.

    Google Scholar 

  • Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria: Mutations and polymorphisms in the phenylalanine hydroxylase gene.Hum Mutat 1: 13–23.

    Google Scholar 

  • Guldberg P, Henrikson KF, Guttler F (1993) Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.Genomics 17: 141–146.

    Google Scholar 

  • Kwok SCM, Ledly FD, DiLella AG, Robson KJH, Woo SLC (1985) Nucleotide sequence of a full length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.Biochemistry 24: 556–561.

    Google Scholar 

  • Lidsky AS, Law ML, Morse HG et al (1985) Regional mapping of phenylketonuria hydroxylase gene and the phenylketonuria locus in the human genome.Proc Natl Acad Sci USA 82: 6221–6225.

    Google Scholar 

  • Matalon R, Michals K (1991) Phenylketonuria: screening, treatment and maternal PKU.Clin Biochem 24: 337–341.

    Google Scholar 

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

    Google Scholar 

  • Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RGH (1993) Comparison of genotype and intellectual phenotype in untreated PKU patients.J Med Genet 30: 401–405.

    Google Scholar 

  • Scriver CR, Kaufman S, Woo SL (1989) The hyperphenylalaninemias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 495–546.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Research Institute, Miami Children's Hospital, 6125 S.W. 31st Street, 33155, Miami, FL, USA

    R. Kaul, R. Matalon, K. Michals & A. Petrosky

  2. Department of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI, USA

    R. Allen

  3. Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA

    R. O. Fisch

  4. Department of Nutrition, University of Illinois, Chicago, IL, USA

    D. Sullivan

Authors
  1. R. Kaul
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Matalon
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. Allen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. O. Fisch
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. K. Michals
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. A. Petrosky
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. D. Sullivan
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kaul, R., Matalon, R., Allen, R. et al. Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA. J Inherit Metab Dis 17, 356–358 (1994). https://doi.org/10.1007/BF00711829

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711829

Keywords

Search

Navigation