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Article

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.

Molecular genetics and metabolism - 1 Aug 2005

Maeda Tohru, Sumi Satoshi, Ueta Akihito, Ohkubo Yumiko, Ito Tetsuya, Marinaki Anthony M, Kurono Yukihisa, Hasegawa Shinsaku, Togari Hajime

Abstract excerpt

Inosine triphosphate pyrophosphohydrolase (ITPase) is an enzyme that catalyzes the conversion of inosine triphosphate (ITP) to inosine monophosphate and pyrophosphate. In Caucasian populations it is reported that the frequency of cases showing decreased ITPase activity is 5%. The structure of ITPA gene along with five single nucleotide polymorphisms has been reported in Caucasians. We examined ITPase activity and...

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Source

Identifiers

PMID: 15946879
DOI: 10.1016/j.ymgme.2005.03.011

Genes

ITPA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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