据Brain 2010年11月23日[2010,133(Pt12):3510-3518]报道,由深圳华大基因研究院、中南大学湘雅医院等单位合作研究发现,利用全外显子组测序技术发现小脑共济失调新的致病基因TGM6这是中国科学家应用外显子组测序技术进行单基因病研 According to a report by Brain on November 23, 2010 [2010,133 (Pt12): 3510-3518], a collaborative study conducted by Shenzhen Huada Gene Research Institute and Xiangya Hospital of Central South University found that the use of whole exome sequencing Cerebellar ataxia new pathogenic gene TGM6 This is Chinese scientists using exome sequencing technology for single gene disease research