A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias

• Main Authors: Siddiqi S., Foo J.N., Vu A., Azim S., Silver D.L., Mansoor A., Tay S.K.H., Abbasi S., Hashmi A.H., Janjua J., Khalid S., Tai E.S., Yeo G.W., Khor C.C.
• 其他作者: MEDICINE
• 格式: Article
• 出版: Public Library of Science (PLoS) 2018
• 在線閱讀: http://scholarbank.nus.edu.sg/handle/10635/142607

10.1371/journal.pone.0113258