Article
Detection of one single mutation predicts thiopurine S-methyltransferase activity in a population of Saami in northern Norway.
Clinical pharmacology and therapeutics - 1 Aug 2001
Loennechen T, Utsi E, Hartz I, Lysaa R, Kildalsen H, Aarbakke J
Abstract excerpt
Thiopurine S-methyltransferase (TPMT) activity exhibits genetic polymorphism. The purpose of this investigation was to identify TPMT mutant alleles in the Saami population as a basis of developing genotyping tests for prediction of TPMT activity. The most predominant allele in Saamis (n = 194) was the TPMT*3C allele (A719G mutation) representing 92% of the mutant alleles, with an estimated allelic frequency of...
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