Article
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.
Human mutation - 1 Sept 2006
Schaeffeler Elke, Eichelbaum Michel, Reinisch Walter, Zanger Ulrich M, Schwab Matthias
Abstract excerpt
The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators. In consequence, adverse drug reactions may occur if standard doses of thiopurines are applied routinely. Genetic prediction of the methylator phenotype as a basis for dose selection requires the extensive...
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