present in Gene: XDH
present in Chromosome: 2
Position on Chromosome: 31397718
Alleles of this Variant: G/A
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.