Title : Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.

Pub. Date : 2003 Nov

PMID : 14551354

1 Functional Relationships(s)
Compound Name
Protein Name
1 Within the entire coding region of the XDH gene, an A to T base change at nucleotide position 2164 was identified in the siblings, indicating a nonsense substitution from AAG (Lys) to TAG (Tyr) at codon 722. Tyrosine xanthine dehydrogenase Homo sapiens