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

Hum Genet. 2008 Oct;124(3):324.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Substitution*
  • Argentina
  • Biopsy
  • Codon / genetics*
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Neuronal Ceroid-Lipofuscinoses / ethnology
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Phenotype
  • Point Mutation

Substances

  • CLN6 protein, human
  • Codon
  • Membrane Proteins