Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN

Am J Med Genet. 1996 May 17;63(2):414-5. doi: 10.1002/ajmg.1320630206.
No abstract available

Publication types

  • Letter

MeSH terms

  • Angelman Syndrome / genetics*
  • Autoantigens / genetics*
  • Blotting, Southern
  • CpG Islands
  • DNA Methylation
  • DNA Probes
  • Exons*
  • Genomic Imprinting*
  • Humans
  • Mutation
  • Prader-Willi Syndrome / genetics
  • Ribonucleoproteins, Small Nuclear / genetics*
  • snRNP Core Proteins

Substances

  • Autoantigens
  • DNA Probes
  • Ribonucleoproteins, Small Nuclear
  • SNRPN protein, human
  • snRNP Core Proteins