VARIANT: 411v1
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Entry
411v1 Variant
Name
ARSB deficiency
Gene
ARSB
arylsulfatase B [KO:
K01135
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
611542
Network
nt06012
Glycosaminoglycan degradation
Disease
H00131
Mucopolysaccharidosis type VI
Drug target
Galsulfase:
D06565
<JP/US>
Reference
PMID:
30118150
Authors
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ
Title
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Journal
Hum Mutat 39:1788-1802 (2018)
DOI:
10.1002/humu.23613
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