KEGG   VARIANT: 410v1
Entry
410v1                      Variant                                 
Name
ARSA deficiency
Gene
ARSA  arylsulfatase A [KO:K01134]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607574
Disease
H00127  Metachromatic leukodystrophy
Reference
PMID:2574462
  Authors
Gieselmann V, Polten A, Kreysing J, von Figura K
  Title
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
  Journal
Proc Natl Acad Sci U S A 86:9436-40 (1989)
DOI:10.1073/pnas.86.23.9436
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