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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Detalles Bibliográficos
Autores principales: Guy, Jacky, Alexander-Howden, Beatrice, FitzPatrick, Laura, DeSousa, Dina, Koerner, Martha V, Selfridge, Jim, Bird, Adrian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030874/
https://www.ncbi.nlm.nih.gov/pubmed/29718204
http://dx.doi.org/10.1093/hmg/ddy159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030874/
https://www.ncbi.nlm.nih.gov/pubmed/29718204
http://dx.doi.org/10.1093/hmg/ddy159

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