KEGG   VARIANT: 2582v1
Entry
2582v1                      Variant                                
Name
GALE deficiency
Gene
GALE  UDP-galactose-4-epimerase [KO:K01784]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606953
Network
nt06023  Galactose degradation
Disease
H02010  Galactose epimerase deficiency
Reference
PMID:9700591
  Authors
Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM
  Title
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
  Journal
J Inherit Metab Dis 21:341-50 (1998)
DOI:10.1023/A:1005342306080
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