A detailed analysis of the MECP2 gene : prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT). In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved...

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