Discrepancy in redetermination of SMN2 copy numbers in children with SMA

被引：44
|
作者：
Schorling, David Christof [1 ]
Becker, Jutta [2 ,3 ]
Pechmann, Astrid [1 ]
Langer, Thorsten [1 ]
Wirth, Brunhilde [2 ,3 ]
Kirschner, Janbernd [1 ]
机构：
[1] Univ Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany
[2] Univ Cologne, Inst Genet, Ctr Mol Med Cologne, Inst Human Genet, Cologne, Germany
[3] Univ Cologne, Inst Genet, Ctr Mol Med Cologne, Cologne, Germany
来源：
NEUROLOGY | 2019年 / 93卷 / 06期
关键词：
SPINAL MUSCULAR-ATROPHY;
D O I：
10.1212/WNL.0000000000007836
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：267 / 269
页数：3
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