KEGG   VARIANT: 2588v1
Entry
2588v1                      Variant                                
Name
GALNS deficiency
Gene
GALNS  galactosamine (N-acetyl)-6-sulfatase [KO:K01132]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612222
Network
nt06012  Glycosaminoglycan degradation
Disease
H00123  Mucopolysaccharidosis type IV
Drug target
Elosulfase alfa: D10333<JP/US>
Reference
PMID:25252036
  Authors
Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM
  Title
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
  Journal
Am J Med Genet A 164A:2793-801 (2014)
DOI:10.1002/ajmg.a.36735
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