KEGG   VARIANT: 7498v1
Entry
7498v1                      Variant                                
Name
XDH deficiency
Type
Loss of function
Gene
XDH  xanthine dehydrogenase [KO:K00106]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607633
Network
nt06025  Molybdenum cofactor biosynthesis
Disease
H00192  Xanthinuria
Reference
PMID:9153281
  Authors
Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O
  Title
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
  Journal
J Clin Invest 99:2391-7 (1997)
DOI:10.1172/JCI119421
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