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Inosine triphosphate (ITP) pyrophosphohydrolase (ITPA) catalyzes the pyrophosphohydrolysis of ITP/dITP and xanthosine triphosphate to prevent incorporation of unusual nucleotides into RNA and DNA. Important mutations leading to enzyme deficiency are 94C>A and IVS2 ؉ 21A>C. An association between ITPA 94C>A and adverse reactions during azathioprine treatment has been shown. To investigate the ITPA-phenotype, an HPLC procedure was developed and phenotype-genotype correlations were assessed.doi:10.1373/clinchem.2005.059501 pmid:16384889 fatcat:nwlbfoviqfef5ekzfqurrw6nha