Article
Characterization of the inosine triphosphatase (ITPA) gene: haplotype structure, haplotype-phenotype correlation and promoter function.
Therapeutic drug monitoring - 1 Feb 2008
von Ahsen Nicolas, Oellerich Michael, Armstrong Victor W
Abstract excerpt
Inosine triphosphatase (ITPA) cleaves phosphate residues from inosine triphosphate (ITP) and deoxy ITP (dITP), thereby recovering inosine monophosphate, which is a substrate for further purine nucleotide pathways. Deficient ITPA activity leads to intracellular accumulation of ITP/dITP and would, under thiopurine therapy, lead to accumulation of unusual thio-inosine metabolites (thio-ITP) with the potential for...
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