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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Guy, Jacky, Alexander-Howden, Beatrice, FitzPatrick, Laura, DeSousa, Dina, Koerner, Martha V, Selfridge, Jim, Bird, Adrian
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2018
Aiheet:
Linkit: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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