Gene involved GUSB
Mutation tested c.866C>T
Transmission mode : Autosomal recessive
Publication : Hytönen et al. (2012). A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.
Gene involved GUSB
Mutation tested c.599G>A
Transmission mode : Autosomal recessive
Publication : Dombrowski et al. (2004). Mucopolysaccharidosis type VII in a German Shepherd Dog.