Condition: Xanthinuria, Type I


rs72549369 in XDH gene and Xanthinuria, Type I PMID 14551354 2003 Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.

PMID 11379872 2001 Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.

PMID 10844591 2000 XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

PMID 9153281 1997 Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.