TY  - JOUR 
AU  - Couselo Sánchez, José Miguel
PY  - 2014
SN  - 0902-4441
UR  - http://hdl.handle.net/20.500.11940/6233
LA  - eng
TI  - Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype
DO  - 10.1111/ejh.12203
T2  - EUROPEAN JOURNAL OF HAEMATOLOGY
M2  - 49
VL  - 92
ER  -