KEGG   VARIANT: 2717v2
Entry
2717v2                      Variant                                
Name
GLA mutation, migalastat amenable
Gene
GLA  galactosidase alpha [KO:K01189]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L300P
ClinVar: 92569
dbSNP: rs398123223
Network
nt06014  Sphingolipid degradation
Disease
H00125  Fabry disease
Drug target
Migalastat (DG02691): D05031<JP/US>
Reference
PMID:21598360
  Authors
Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER
  Title
A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
  Journal
Hum Mutat 32:965-77 (2011)
DOI:10.1002/humu.21530
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