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Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation

BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD...

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Detalles Bibliográficos
Autores principales:	Wen, Zhu, Cheng, Tian-Lin, Li, Gai-zhi, Sun, Shi-Bang, Yu, Shun-Ying, Zhang, Yi, Du, Ya-Song, Qiu, Zilong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543534/ https://www.ncbi.nlm.nih.gov/pubmed/28785396 http://dx.doi.org/10.1186/s13229-017-0157-5

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