Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT OMIM 312750). Alternative inclusion of MECP2/Mecp2 exon 1 with exons 3 and 4 encodes MeCP2-e1 or MeCP2-e2 protein isoforms with unique amino termini. While most MECP2 mutations are located in exons 3 and 4 thus affecting bot...

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Autores principales: Yasui, Dag H., Gonzales, Michael L., Aflatooni, Justin O., Crary, Florence K., Hu, Daniel J., Gavino, Bryant J., Golub, Mari S., Vincent, John B., Carolyn Schanen, N., Olson, Carl O., Rastegar, Mojgan, Lasalle, Janine M.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2014
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976336/
https://ncbi.nlm.nih.gov/pubmed/24352790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt640
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