Article
Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population.
Nucleosides, nucleotides & nucleic acids - 1 Oct 2004
Marinaki A M, Sumi S, Arenas M, Fairbanks L, Harihara S, Shimizu K, Ueta A, Duley J A
Abstract excerpt
The enzyme inosine triphosphate pyrophosphatase (ITPase) catalyses the pyrophosphohydrolysis of ITP to IMP. ITPase deficiency is a clinically benign autosomal recessive condition characterised by the abnormal accumulation of ITP in erythrocytes. A deficiency of ITPase may predict adverse reactions to therapy with the thiopurine drug 6-mercaptopurine and its prodrug azathioprine. In this study, we examine the...
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