A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy

被引:0
|
作者
Zhu, L. [1 ]
Zhang, W. [1 ]
Hu, C-F [2 ]
Fan, L-L [2 ]
Liu, Y-H [3 ]
机构
[1] Ordos Cent Hosp, Dept Obstet & Gynecol, Ordos 017000, Peoples R China
[2] Cent South Univ, Sch Life Sci, Dept Cell Biol, Changsha 410000, Peoples R China
[3] Yangzhou Univ, Dept Neurol, Affiliated Hosp, Yangzhou, Peoples R China
关键词
D O I
10.1093/qjmed/hcad274
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:233 / 235
页数:3
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