Associated Papers
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Gianakopoulos PJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.
Saunders CJ et al.
American Journal of Medical Genetics. Part A, 2009
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