Authors: Skordis, LA Dunckley, MG Burglen, L Campbell, L Talbot, K Patel, S Melki, J Davies, KE Dubowitz, V Muntoni, F

Citation: La. Skordis et al., Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA, HUM GENET, 108(4), 2001, pp. 356-357