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A mutation-led search for novel functional domains in MeCP2

Most missense mutations causing Rett syndrome (RTT) affect domains of MeCP2 that have been shown to either bind methylated DNA or interact with a transcriptional co-repressor complex. Several mutations, however, including the C-terminal truncations that account for ∼10% of cases, fall outside these...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Guy, Jacky, Alexander-Howden, Beatrice, FitzPatrick, Laura, DeSousa, Dina, Koerner, Martha V, Selfridge, Jim, Bird, Adrian
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6030874/
https://ncbi.nlm.nih.gov/pubmed/29718204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy159
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