The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

Nat Genet. 1997 Sep;17(1):14-5. doi: 10.1038/ng0997-14.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Angelman Syndrome / enzymology
  • Angelman Syndrome / genetics*
  • Brain / enzymology*
  • Child, Preschool
  • Chromosome Inversion
  • Chromosomes, Human, Pair 15
  • DNA Transposable Elements
  • Female
  • Frameshift Mutation
  • Genomic Imprinting
  • Humans
  • Ligases / biosynthesis
  • Ligases / genetics*
  • Lymphocytes / enzymology
  • Organ Specificity
  • Point Mutation
  • Reference Values
  • Sequence Deletion
  • Transcription, Genetic
  • Ubiquitin-Protein Ligases

Substances

  • DNA Transposable Elements
  • Ubiquitin-Protein Ligases
  • Ligases