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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Autism
Prif Awduron: Wen, Zhu, Cheng, Tian-Lin, Li, Gai-zhi, Sun, Shi-Bang, Yu, Shun-Ying, Zhang, Yi, Du, Ya-Song, Qiu, Zilong
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2017
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5543534/
https://ncbi.nlm.nih.gov/pubmed/28785396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-017-0157-5
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