Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene

J Med Genet. 1999 Sep;36(9):723-4.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Angelman Syndrome / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics*
  • Electroencephalography*
  • Female
  • Humans
  • Ligases / genetics*
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion*
  • Ubiquitin-Protein Ligases

Substances

  • UBE3A protein, human
  • Ubiquitin-Protein Ligases
  • Ligases