KEGG   VARIANT: 2581v1
Entry
2581v1                      Variant                                
Name
GALC deficiency
Gene
GALC  galactosylceramidase [KO:K01202]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606890
Disease
H00135  Krabbe disease
Reference
  Authors
Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M
  Title
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
  Journal
Hum Mutat 31:E1894-914 (2010)
DOI:10.1002/humu.21367
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