References
- ALS online genetics database: http://alsod.iop.kcl.ac.uk/
- Del Grande A, Luigetti M, Conte A, Mancuso I, Lattante S, Marangi G, . A novel L67P SOD1 mutation in an Italian ALS patient. Amyotroph Lateral Scler. 2011;12:150–2.
- Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. CMGS/VGKL 2007: http://www.cmgs.org
- Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet. 2006;7:61–80.
- Valdmanis PN, Verlaan DJ, Rouleau GA. The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease. Hum Mutat. 2009;30:481–9.
- Boukaftane Y, Khoris J, Moulard B, Salachas F, Meininger V, Malafosse A, . Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci. 1998;25:192–6.