Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich

被引：1
|
作者：
Zou, Y. [1 ]
Schessl, J. [1 ]
Lampe, A. [2 ]
Hu, Y. [1 ]
Jimenez-Mallebrera, C. [3 ]
Schreiber, G. [4 ]
Stolte-Dijkstra, I. [5 ]
Fock, A. [5 ]
Chu, M. [6 ]
Bushby, K. [2 ]
Weiss, R. [7 ]
Flanigan, K. [7 ]
Muntoni, F. [3 ]
Boennemann, C. [1 ]
机构：
[1] Univ Penn, Sch Med, Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA
[2] Univ Newcastle Upon Tyne, Ctr Int Life, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[3] Univ London Imperial Coll Sci & Technol, Hammersmith Hosp, Dubowitz Neuromusc Ctr, London, England
[4] Hosp Kassel, Dept Neuropediat, Kassel, Germany
[5] Univ Groningen, Med Ctr, Groningen, Netherlands
[6] Thomas Jefferson Univ, Jefferson Inst Mol Med, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
[7] Univ Utah, Dept Human Genet, Salt Lake City, UT USA
来源：
NEUROMUSCULAR DISORDERS | 2007年 / 17卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2007.06.280
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：844 / 844
页数：1
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