Condition: Xanthinuria, Type II


rs577279030 in MOCOS gene and Xanthinuria, Type II PMID 11302742 2001 Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.

PMID 17368066 2007 Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

PMID 14624414 2003 Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.

rs148412639 in XDH gene and Xanthinuria, Type II PMID 9153281 1997 Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.