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.
• Other Authors: BIOCHEMISTRY
• Format: Article
• Published: Public Library of Science (PLoS) 2018
• Online Access: http://scholarbank.nus.edu.sg/handle/10635/142607
• Institution: National University of Singapore

10.1371/journal.pone.0113258