Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome

Hum Genet. 2009 Aug;126(2):331.
No abstract available

MeSH terms

  • Angelman Syndrome / genetics*
  • Base Sequence
  • Child, Preschool
  • Codon
  • DNA Mutational Analysis
  • Electroencephalography / methods
  • Humans
  • Male
  • Microcephaly / genetics
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Mutation*
  • Nucleotides / genetics*
  • Sequence Analysis, DNA
  • Ubiquitin-Protein Ligases / genetics*

Substances

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

Associated data

  • GENBANK/HI080014