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MYORG mutation heterozygosity is associated with brain calcification
Movement Disorders ( IF 7.4 ) Pub Date : 2020-01-17 , DOI: 10.1002/mds.27973
You Chen 1, 2 , Zhidong Cen 1, 2 , Xinhui Chen 1 , Haotian Wang 1, 2 , Si Chen 1, 2 , Dehao Yang 1, 2 , Feng Fu 1, 3 , Lebo Wang 1 , Peng Liu 1, 2 , Hongwei Wu 4 , Xiaosheng Zheng 5 , Fei Xie 6 , Zhiyuan Ouyang 1 , Yun Zhang 1 , Yongji Zhou 7 , Xuerong Huang 8 , Feng Wang 9 , Guangsu Huang 10 , Hongwei An 11 , Yubing Liang 11 , Weijun Hong 12 , Anli Wang 13 , Shuangling Huang 14 , Wenhai Chen 15 , Lili Yin 16 , Yan Yang 17, 18 , Huayun Huang 19 , Ruxin Zeng 20 , Na Zhao 21 , Biao Jiang 22 , Baorong Zhang 1 , Wei Luo 1 ,
Affiliation  

Biallelic mutations in the MYORG gene were first identified as the cause of recessively inherited primary familial brain calcification. Interestingly, some heterozygous carriers also exhibited brain calcifications.

中文翻译:

MYORG 突变杂合性与脑钙化有关

MYORG 基因中的双等位基因突变首先被确定为隐性遗传的原发性家族性脑钙化的原因。有趣的是,一些杂合子携带者也表现出脑钙化。
更新日期:2020-01-17
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