DUCHENNE MUSCULAR DYSTROPHY CAUSED BY A NOVEL DEEP INTRONIC DMD MUTATION

被引：6
作者：
Ginsberg, Matthew R. [1 ]
McCarty, Andrew J. [2 ]
Lacomis, David [3 ,4 ,5 ]
Abdel-Hamid, Hoda Z. [1 ]
机构：
[1] Childrens Hosp Pittsburgh, Dept Pediat Neurol, Pittsburgh, PA 15213 USA
[2] Childrens Hosp Pittsburgh, Dept Lab Serv, Pittsburgh, PA 15213 USA
[3] Univ Pittsburgh, Dept Neurol, Sch Med, Pittsburgh, PA 15260 USA
[4] UPMC, Pittsburgh, PA USA
[5] Univ Pittsburgh, Sch Med, Dept Pathol Neuropathol, Pittsburgh, PA USA
来源：
MUSCLE & NERVE | 2018年 / 57卷 / 06期
关键词：
DMD; Duchenne muscular dystrophy; intronic; mutation; splice-site;
D O I：
10.1002/mus.26073
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：E136 / E138
页数：3
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