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

页码：847 / 848

页数：2

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