Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

J Med Genet. 2005 Feb;42(2):e15. doi: 10.1136/jmg.2004.026161.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA Mutational Analysis
  • Exons*
  • Female
  • Humans
  • Introns
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation*
  • Rett Syndrome / genetics*

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2