A novel homozygous mutation of DARS2 may cause a severe LBSL variant

被引：30
|
作者：
Miyake, N. [1 ]
Yamashita, S. [2 ]
Kurosawa, K. [3 ]
Miyatake, S.
Tsurusaki, Y.
Doi, H.
Saitsu, H.
Matsumoto, N.
机构：
[1] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan
[2] Kanagawa Childrens Med Ctr, Div Child Neurol, Yokohama, Kanagawa, Japan
[3] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
来源：
CLINICAL GENETICS | 2011年 / 80卷 / 03期
关键词：
SPINAL-CORD INVOLVEMENT; BRAIN-STEM; HIGH LACTATE; LEUKOENCEPHALOPATHY;
D O I：
10.1111/j.1399-0004.2011.01644.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：293 / 296
页数：4
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