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Article

A disease spectrum for ITPA variation: advances in biochemical and clinical research.

Journal of biomedical science - 22 Oct 2016

Burgis Nicholas E

Abstract excerpt

Human ITPase (encoded by the ITPA gene) is a protective enzyme which acts to exclude noncanonical (deoxy)nucleoside triphosphates ((d)NTPs) such as (deoxy)inosine 5'-triphosphate ((d)ITP), from (d)NTP pools. Until the last few years, the importance of ITPase in human health and disease has been enigmatic. In 2009, an article was published demonstrating that ITPase deficiency in mice is lethal. All homozygous null...

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Source

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Identifiers

PMID: 27770805
DOI: 10.1186/s12929-016-0291-y
PMCID: PMC5075207

Genes

ITPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A disease spectrum for ITPA variation: advances in biochemical and clinical research.PMID 27770805Read ↗

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Purine nucleoside phosphorylase deficiency: a mutation update.Semantic proximity Read ↗

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