Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Neuron. 2016 Jun 1;90(5):905-6. doi: 10.1016/j.neuron.2016.05.027.
A mutation in a nuclear receptor (NR1H3) gene was detected in a familial, progressive form of multiple sclerosis (PPMS). Further analyses showed a significant association between a common NR1H3 variant in PPMS patients and loss of function for the encoded protein.
在家族性进行性多发性硬化症（PPMS）中检测到核受体（NR1H3）基因突变。进一步分析显示，PPMS 患者中常见的 NR1H3 变异与编码蛋白的功能丧失之间存在显著关联。
