SIGMAR1

Xiang-Qian Che1, Guo-Zhen Lin2, Xiao-Hong Liu3

  • 1Department of Neurology & Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

概括

在一个有语义性痴呆症的患者中发现了一种新型的Sigma nonopioid细胞内受体1 (SIGMAR1) 变异,独立于C9orf72基因状态. 这一发现表明SIGMAR1的存在.