CACNA1A 基因的错义突变R1345Q导致一种新的共济失调伴随发作性全身震颤:临床特征、基因诊断 及治疗的家系分析
蒋海山,王冬梅,王群,杨曼,王伟,潘速跃,胡亚芳
Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case
南方医科大学学报 . 2016, (07): 883 .