TY  - CONF 
AU  - Fernández Marmiesse, Ana
PY  - 2014
SN  - 0340-5354
UR  - http://hdl.handle.net/20.500.11940/1002
LA  - eng
TI  - Heterozygote mutation in POLR3A and AIMP1 genes in patient with hypomyelinating leukodystrophy
DO  - http://dx.doi.org/10.1007/s00415-014-7337-4
VL  - 261
ER  -