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Article

Detection of a novel single nucleotide polymorphism of the human thiopurine s-methyltransferase gene in a Chinese individual.

Drug metabolism and pharmacokinetics - 1 Jan 2012

Lee Chun Kiat, Loh Tze Ping, Wong Soon Tee, Lee Hong Kai, Huan Pei Tee, Chiu Lily-Lily, Koay Evelyn Siew-Chuan

Abstract excerpt

A 62-year-old Chinese patient with recurrent pompholyx submitted his blood sample for pre-treatment thiopurine S-methyltransferase (TPMT) pharmacogenetic profiling, and it was found to harbour a novel single nucleotide polymorphism (SNP). The novel SNP, detected by mRNA sequencing, was a c.2T>C (g.11018T>C) transition in the start codon, causing a Met1Thr amino acid change. This finding was confirmed on a...

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Source

Identifiers

PMID: 22447118
DOI: 10.2133/dmpk.dmpk-12-sc-008

Genes

TPMT

Variants

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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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