Article
Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms.
Clinical pharmacology and therapeutics - 1 Jul 1997
Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park-Hah J O, Iven H, Schmiegelow K, Branum E, O'Brien J, Weinshilboum R
Abstract excerpt
Thiopurine methyltransferase (TPMT) catalyzes the S-methylation of thiopurine drugs. TPMT activity is regulated by a common genetic polymorphism that is associated with large individual variations in thiopurine toxicity and efficacy. We previously cloned the functional gene for human TPMT and reported a common variant allele for low enzyme activity, TPMT*3A, that contains point mutations at cDNA nucleotides 460...
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