Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland

J Med Genet. 1998 Sep;35(9):790. doi: 10.1136/jmg.35.9.790.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Humans
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Scotland
  • Thiolester Hydrolases / genetics*

Substances

  • Thiolester Hydrolases
  • palmitoyl-protein thioesterase