A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis

Neurogenetics. 2011 Feb;12(1):93-5. doi: 10.1007/s10048-010-0258-1. Epub 2010 Sep 7.
No abstract available

Publication types

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

MeSH terms

  • Aminopeptidases / genetics*
  • Asian People / genetics
  • Base Sequence
  • Child
  • China
  • DNA / genetics
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / enzymology
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Pedigree
  • RNA Splice Sites
  • Serine Proteases / genetics*
  • Tripeptidyl-Peptidase 1

Substances

  • RNA Splice Sites
  • Tripeptidyl-Peptidase 1
  • DNA
  • Serine Proteases
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • TPP1 protein, human