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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression. In heterozygous females the variable phenotypic severity is modulated by non-random X-inactivation, thus making genotype-phenotype comparis...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5144150/
https://ncbi.nlm.nih.gov/pubmed/27929079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep38590
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