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Xanthinuria type I

Disease ID:960
Name:Xanthinuria type I
Associated with:1 target
Database Links
OMIM: 278300
Orphanet: ORPHA93601


xanthine dehydrogenase
Mutations:  xanthine dehydrogenase is associated with 1 mutation. Click here for details


No ligand related data available for Xanthinuria type I


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1. Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O. (1997) Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J. Clin. Invest., 99 (10): 2391-7. [PMID:9153281]