MeCP2 mutations: progress towards understanding and treating Rett syndrome

Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 funct...

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Detalles Bibliográficos
Autores principales: Shah, Ruth R., Bird, Adrian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316219/
https://www.ncbi.nlm.nih.gov/pubmed/28212680
http://dx.doi.org/10.1186/s13073-017-0411-7
Descripción
Sumario:Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.

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