A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

E Workman, L Saieva, T. L Carrel, T. O Crawford, D Liu, C Lutz, C. E Beattie, L Pellizzoni and A. H.M. Burghes

Human Molecular Genetics 18 ( 12 ): 2215 - 2229 , 2009