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

页码：844 / 844

页数：1

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