Analysis of CH25H in multiple sclerosis and neuromyelitis optica
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- 作者：Amanda L. Forwella ; Cecily Q. Bernalesa ; Jay P. Rossa ; Irene M. Yeea ; Mary Encarnaciona ; Joshua D. Leea ; A. Dessa Sadovnicka ; b ; Anthony L. Traboulseeb ; Carles Vilariñ ; o-Gü ; ella ; carles@can.ubc.ca" class="auth_mail" title="E-mail the corresponding author
- 关键词：CH25H ; Association ; Mutation ; Multiple sclerosis ; Neuromyelitis optica
- 刊名：Journal of Neuroimmunology
- 出版年：2016
- 出版时间：15 February 2016
- 年：2016
- 卷：291
- 期：Complete
- 页码：70-72
- 全文大小：254 K
文摘
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CH25H p.Q17H was identified in two patients diagnosed with neuromyelitis optica.
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Rare CH25H missense variants were not observed in multiple sclerosis patients.
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Common CH25H genetic variants are associated with progressive multiple sclerosis.