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Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype
2004
Journal of Child Neurology
To date, approximately 200 different mutations in the MECP2 gene have been identified. We analyzed the entire coding sequence of the MECP2 gene and the X-chromosome inactivation pattern in 42 sporadic cases of Rett syndrome. Of the 42 patients, 30 had pathogenic mutations, including 14 different mutations: 9 missense mutations, 4 nonsense mutations, and 1 frameshift mutation. One was a novel mutation (S134P). There was a tendency for patients who had a nonsense mutation in the transcriptional
doi:10.1177/08830738040190070501
pmid:15526954
fatcat:nj6qy7cx5ffmnm42sqkyvvkqaa