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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Udgivet i:Hum Mol Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2016
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Articles
Online adgang: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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