Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

BACKGROUND: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genoty...

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Detalles Bibliográficos
Autores principales: Guo, Hui, Wang, Tianyun, Wu, Huidan, Long, Min, Coe, Bradley P., Li, Honghui, Xun, Guanglei, Ou, Jianjun, Chen, Biyuan, Duan, Guiqin, Bai, Ting, Zhao, Ningxia, Shen, Yidong, Li, Yun, Wang, Yazhe, Zhang, Yu, Baker, Carl, Liu, Yanling, Pang, Nan, Huang, Lian, Han, Lin, Jia, Xiangbin, Liu, Cenying, Ni, Hailun, Yang, Xinyi, Xia, Lu, Chen, Jingjing, Shen, Lu, Li, Ying, Zhao, Rongjuan, Zhao, Wenjing, Peng, Jing, Pan, Qian, Long, Zhigao, Su, Wei, Tan, Jieqiong, Du, Xiaogang, Ke, Xiaoyan, Yao, Meiling, Hu, Zhengmao, Zou, Xiaobing, Zhao, Jingping, Bernier, Raphael A., Eichler, Evan E., Xia, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293633/
https://www.ncbi.nlm.nih.gov/pubmed/30564305
http://dx.doi.org/10.1186/s13229-018-0247-z

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