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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Mol Genet
मुख्य लेखकों: Guy, Jacky, Alexander-Howden, Beatrice, FitzPatrick, Laura, DeSousa, Dina, Koerner, Martha V, Selfridge, Jim, Bird, Adrian
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2018
विषय:
ऑनलाइन पहुंच: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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