家族物质在多发性硬化症基因发现中的附加价值。
The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.
机构信息
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.
出版信息
Neuron. 2016 Jun 1;90(5):905-6. doi: 10.1016/j.neuron.2016.05.027.
PMID:27253441
Abstract
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.
摘要
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。
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