KEGG   VARIANT: 2990v1
Entry
2990v1                      Variant                                
Name
GUSB deficiency
Gene
GUSB  glucuronidase beta [KO:K01195]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611499
Network
nt06012  Glycosaminoglycan degradation
Disease
H00132  Mucopolysaccharidosis type VII
Drug target
Vestronidase alfa: D11004<JP/US>
Reference
PMID:7633414
  Authors
Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T
  Title
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
  Journal
Hum Mol Genet 4:651-5 (1995)
DOI:10.1093/hmg/4.4.651
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