Article
A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations.
British journal of haematology - 1 Sept 2000
Coulthard S A, Rabello C, Robson J, Howell C, Minto L, Middleton P G, Gandhi M K, Jackson G, McLelland J, O'Brien H, Smith S, Reid M M, Pearson A D, Hall A G
Abstract excerpt
S-Methylation by thiopurine methyltransferase (TPMT) is an important route of metabolism for the thiopurine drugs. About one in 300 individuals are homozygous for a TPMT mutation associated with very low enzyme activity and severe myelosuppression if treated with standard doses of drug. To validate the use of molecular genetic techniques for the detection of TPMT deficiency, we have determined red blood cell TPMT...
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