Article
Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.
BMC medical genetics - 30 Jun 2009
Qin Jian, Jia Meixiang, Wang Lifang, Lu Tianlan, Ruan Yan, Liu Jing, Guo Yanqing, Zhang Jishui, Yang Xiaoling, Yue Weihua, Zhang Dai
Abstract excerpt
BACKGROUND: Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD) of excitatory synapse. Rare mutations and copy number variation (CNV) evidence suggested...
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