Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease

J Med Genet. 2002 Sep;39(9):e55. doi: 10.1136/jmg.39.9.e55.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amidohydrolases / genetics*
  • Canavan Disease / enzymology
  • Canavan Disease / genetics*
  • Canavan Disease / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Humans
  • Male
  • Mutation, Missense*
  • Norway
  • Sweden

Substances

  • DNA
  • Amidohydrolases
  • aspartoacylase

Associated data

  • OMIM/271900