KEGG   NETWORK: N00652
Entry
N00652                      Network                                

Name
GLA mutation
Definition
Ga2Cer -- GLA*
  Expanded
C06126 -- 2717v2
Class
nt06014 Sphingolipid degradation
Type
Variant
Disease
H00423  Sphingolipidosis
H00125  Fabry disease
Gene
2717  GLA; galactosidase alpha
Variant
2717v2 (GLA*)  GLA mutation, migalastat amenable
Metabolite
C06126  Digalactosylceramide
Reference
PMID:8807334
  Authors
Blanch LC, Meaney C, Morris CP
  Title
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
  Journal

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