Journal article

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Ference J Loupatty, Peter T Clayton, Jos PN Ruiter, Rob Ofman, Lodewijk Ijlst, Garry K Brown, David R Thorburn, Robert A Harris, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon JR Heales, Ronald JA Wanders

American Journal of Human Genetics | CELL PRESS | Published : 2007