Clinical utility gene card for: Angelman Syndrome

Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics*
  • Genetic Testing
  • Humans
  • Mutation
  • Prenatal Diagnosis
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • UBE3A protein, human
  • Ubiquitin-Protein Ligases