EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILY

被引:28
作者
Landoure, Guida [2 ,4 ,5 ,8 ]
Sullivan, Jeremy M. [1 ]
Johnson, Janel O. [3 ,6 ,7 ]
Munns, Clare H. [9 ,10 ,11 ]
Shi, Yijun [2 ]
Diallo, Oumarou [2 ]
Gibbs, J. Raphael [3 ,6 ,7 ]
Gaudet, Rachelle [12 ]
Ludlow, Christy L. [13 ]
Fischbeck, Kenneth H. [2 ]
Traynor, Bryan J. [3 ]
Burnett, Barrington G. [2 ]
Sumner, Charlotte J. [1 ,9 ]
机构
[1] Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA
[2] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA
[3] NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
[4] UCL, Dept Med, London, England
[5] UCL, Dept Neurosci, London, England
[6] UCL, Dept Mol Neurosci, London, England
[7] UCL, Reta Lila Weston Labs, Inst Neurol, London, England
[8] Univ Bamako, Ctr Hosp Univ Point G, Serv Neurol, Bamako, Mali
[9] Johns Hopkins Univ, Dept Biol Chem, Baltimore, MD 21218 USA
[10] Johns Hopkins Univ, Dept Neurosci, Baltimore, MD 21218 USA
[11] Johns Hopkins Univ, Ctr Sensory Biol, Baltimore, MD 21218 USA
[12] Harvard Univ, Dept Mol & Cellular Biol, Cambridge, MA 02138 USA
[13] James Madison Univ, Lab Neural Bases Commun & Swallowing, Harrisonburg, VA 22807 USA
关键词
GENE;
D O I
10.1212/WNL.0b013e31825f04b2
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:192 / 194
页数:3
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