Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

被引:357
作者
Bolino, A
Muglia, M
Conforti, FL
LeGuern, E
Salih, MAM
Georgiou, DM
Christodoulou, K
Hausmanowa-Petrusewicz, I
Mandich, P
Schenone, A
Gambardella, A
Bono, F
Quattrone, A
Devoto, M
Monaco, AP [1 ]
机构
[1] Wellcome Trust Ctr Human Genet, Oxford, England
[2] Natl Res Council, Inst Expt Med & Biotechnol, Cosenza, Italy
[3] Hop La Pitie Salpetriere, Paris, France
[4] King Saud Univ, Dept Pediat, Riyadh, Saudi Arabia
[5] Cyprus Inst Neurol & Genet, Mol Genet Unit D, Nicosia, Cyprus
[6] Polish Acad Sci, MRC, Neuromuscular Unit, Warsaw, Poland
[7] Univ Genoa, Dipartimento Sci Neurol & Riabilitaz, Genoa, Italy
[8] Univ Genoa, Dipartimento Oncol Biol & Genet, Genoa, Italy
[9] Univ Catanzaro, Inst Neurol, Catanzaro, Italy
关键词
D O I
10.1038/75542
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:17 / 19
页数:3
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