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Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS.

作者信息

DeJesus-Hernandez M, Desaro P, Johnston A, Ross O A, Wszolek Z K, Ertekin-Taner N, Graff-Radford N R, Rademakers R, Boylan K

机构信息

Department of Neuroscience, Mayo Clinic, Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

出版信息

Neurology. 2011 Sep 13;77(11):1102-3. doi: 10.1212/WNL.0b013e31822e563c. Epub 2011 Aug 31.

Abstract
摘要

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本文引用的文献

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Exome sequencing reveals VCP mutations as a cause of familial ALS.
Neuron. 2010 Dec 9;68(5):857-64. doi: 10.1016/j.neuron.2010.11.036.
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3
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.
Hum Mol Genet. 2010 Apr 15;19(R1):R38-45. doi: 10.1093/hmg/ddq157. Epub 2010 Apr 21.

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