Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
Merel S Ebberink, Barbara Csanyi, Wui K Chong, Simone Denis, Peter Sharp, Petra A W Mooijer, Conny J M Dekker, Claire Spooner, Lock H Ngu, Carlos De Sousa, Ronald J A Wanders, Michael J Fietz, Peter T Clayton, Hans R Waterham, Sacha Ferdinandusse
Journal of Medical Genetics Sep 2010, 47 (9) 608-615; DOI: 10.1136/jmg.2009.074302