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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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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Guy, Jacky, Alexander-Howden, Beatrice, FitzPatrick, Laura, DeSousa, Dina, Koerner, Martha V, Selfridge, Jim, Bird, Adrian
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2018
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Online adgang: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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