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Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes

Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a ne...

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Publicado en:Hum Mol Genet
Autores principales: Ross, Paul D., Guy, Jacky, Selfridge, Jim, Kamal, Bushra, Bahey, Noha, Tanner, K. Elizabeth, Gillingwater, Thomas H., Jones, Ross A., Loughrey, Christopher M., McCarroll, Charlotte S., Bailey, Mark E.S., Bird, Adrian, Cobb, Stuart
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886038/
https://ncbi.nlm.nih.gov/pubmed/28173151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw269
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