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Article

Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms.

Pharmacogenetics - 1 Aug 1996

Krynetski E Y, Tai H L, Yates C R, Fessing M Y, Loennechen T, Schuetz J D, Relling M V, Evans W E

Abstract excerpt

Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurines such as mercaptopurine and thioguanine. TPMT activity exhibits genetic polymorphism, with about 1 in 300 inheriting TPMT-deficiency as an autosomal recessive trait. If treated with standard dosages of thiopurines. TPMT-deficient patients accumulate excessive thioguanine nucleotides (TGN) in hematopoietic tissues, leading to severe...

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Identifiers

PMID: 8873214
DOI: 10.1097/00008571-199608000-00001

Genes

TPMT

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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.

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