A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

Hytönen, Marjo KristiinaArumilli, MeharjiLappalainen, Anu K.Kallio, HeliSnellman, MarjattaSainio, KirsiLohi, Hannes2016-08-152016-08-152012Hytönen, M K, Arumilli, M, Lappalainen, A K, Kallio, H, Snellman, M, Sainio, K & Lohi, H 2012, 'A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII', PLoS One, vol. 7, no. 7, pp. e40281. https://doi.org/10.1371/journal.pone.0040281ORCID: /0000-0003-4072-0996/work/63350429ORCID: /0000-0003-1976-5874/work/80222224http://hdl.handle.net/10138/16577911engcc_byinfo:eu-repo/semantics/openAccessBETA-GLUCURONIDASE DEFICIENCYENZYME REPLACEMENT THERAPYL-IDURONIDASE LARONIDASEMPS-VIIOSTEOBLAST DIFFERENTIATIONOSTEOGENESIS IMPERFECTAIDENTIFICATIONMODELMOUSECDNABiomedicineVeterinary scienceA Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VIIArticleopenAccess7d6df6dc-d1b8-4e3e-9aed-2f40c96255fd84863622654000306436300044