TY  - JOUR 
AU  - Sobrido Gómez, María Jesús
AU  - Castro Gago, Manuel
PY  - 2012
SN  - 1061-4036
UR  - http://hdl.handle.net/20.500.11940/4883
LA  - eng
TI  - Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
DO  - 10.1038/ng.2254
T2  - NATURE GENETICS
M2  - 704
VL  - 44
ER  -