Article
Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation.
Proceedings of the National Academy of Sciences of the United States of America - 28 Jun 2005
Wang Liewei, Nguyen Tien V, McLaughlin Richard W, Sikkink Laura A, Ramirez-Alvarado Marina, Weinshilboum Richard M
Abstract excerpt
Thiopurine S-methyltransferase (TPMT) catalyzes the S-methylation of thiopurine drugs. TPMT genetic polymorphisms represent a striking example of the potential clinical value of pharmacogenetics. Subjects homozygous for TPMT*3A, the most common variant allele for low activity, an allele that encodes a protein with two changes in amino acid sequence, are at greatly increased risk for life-threatening toxicity when...
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