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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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Main Authors: | , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Oxford University Press
2014
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Assuntos: | |
Acesso em linha: | 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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