Journal of Inherited Metabolic Disease

, Volume 22, Issue 3, pp 208–212

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

  • P. J. Waters
  • M. A. Parniak
  • B. R. Akerman
  • A. O. Jones
  • C. R. Scriver
Article

DOI: 10.1023/A:1005533825980

Cite this article as:
Waters, P.J., Parniak, M.A., Akerman, B.R. et al. J Inherit Metab Dis (1999) 22: 208. doi:10.1023/A:1005533825980
  • 198 Downloads

Copyright information

© Kluwer Academic Publishers 1999

Authors and Affiliations

  • P. J. Waters
    • 1
  • M. A. Parniak
    • 2
  • B. R. Akerman
    • 1
  • A. O. Jones
    • 1
  • C. R. Scriver
    • 1
  1. 1.deBelle LaboratoryMcGill University-Montreal Children's Hospital Research InstituteMontrealCanada
  2. 2.Lady Davis Institute for Medical ResearchMontrealCanada

Personalised recommendations