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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Detalles Bibliográficos
Autores principales: Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5144150/
https://www.ncbi.nlm.nih.gov/pubmed/27929079
http://dx.doi.org/10.1038/srep38590

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