Article
Methyl-CpG-binding protein 2 mutations in Rett syndrome.
Current opinion in genetics & development - 1 Jun 2000
Van den Veyver I B, Zoghbi H Y
Abstract excerpt
The X-linked methyl-CpG-binding protein 2 gene (MECP2) encodes a protein that links DNA methylation to transcriptional repression mediated by histone deacetylases. Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype.
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