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

页码：E136 / E138

页数：3

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