Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile

Hum Genet. 2008 Oct;124(3):323-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Argentina
  • Biopsy
  • Codon / genetics*
  • Codon, Terminator
  • Exons
  • Female
  • Frameshift Mutation
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / ethnology
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Phenotype

Substances

  • CLN6 protein, human
  • Codon
  • Codon, Terminator
  • Membrane Proteins