TY - CONF AU - Fernández Marmiesse, Ana PY - 2014 SN - 1351-5101 UR - http://hdl.handle.net/20.500.11940/6242 LA - eng TI - Heterozygote mutation in POLR3A and AIMP1 genes in a patient with hypomyelinating leukodystrophy VL - 21 ER -