Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

J Med Genet. 2002 Nov;39(11):822-5. doi: 10.1136/jmg.39.11.822.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Alleles*
  • Aminopeptidases
  • Canada
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Endopeptidases
  • Family Health
  • Genetic Heterogeneity
  • Humans
  • Infant
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Peptide Hydrolases / genetics*
  • Polymorphism, Genetic
  • Serine Proteases
  • Tripeptidyl-Peptidase 1

Substances

  • Tripeptidyl-Peptidase 1
  • DNA
  • Endopeptidases
  • Peptide Hydrolases
  • Serine Proteases
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • TPP1 protein, human

Associated data

  • OMIM/204500