A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes;Amir;Ann Neurol,2000
3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999
4. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations;Amir;Am J Med Genet,2000
5. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients;Bourdon;Hum Genet,2001
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