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
Network
nt06014  Sphingolipid degradation
Disease
H00135  Krabbe disease
Reference
PMID:20886637
  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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