Mutations in ECEL1 lead to distal arthrogryposis type 5D

被引：2
|
作者：
Whyte, T. G. [1 ]
Cirak, S. [1 ]
Oprea, I. [1 ]
Beales, P. [1 ]
Osborn, D. [1 ]
Busch, K. [2 ]
Hurles, M. [2 ]
Longman, C. [3 ]
Quinlivan, R. [1 ]
Sewry, C. [1 ]
Jungbluth, H. [4 ]
Muntoni, F. [1 ]
机构：
[1] UCL, London, England
[2] Wellcome Trust Sanger Inst, Hinxton, Cambs, England
[3] West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland
[4] Guys & St Thomas NHS Fdn Trust, London, England
来源：
NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2014.06.184
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
G.P.154
引用
收藏
页码：847 / 848
页数：2
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