Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis

Am J Med Genet. 2001 Mar 1;99(2):161-3. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aminopeptidases
  • Asian People
  • Base Sequence
  • Child, Preschool
  • DNA
  • DNA Mutational Analysis
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Endopeptidases
  • Exons
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / enzymology*
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Peptide Hydrolases / genetics*
  • Sequence Analysis, DNA
  • Serine Proteases
  • Tripeptidyl-Peptidase 1

Substances

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