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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Methyl-CpG binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770571/ https://www.ncbi.nlm.nih.gov/pubmed/26490184 http://dx.doi.org/10.1038/jhg.2015.118 |