Article
A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase.
Proceedings of the National Academy of Sciences of the United States of America - 14 Feb 1995
Krynetski E Y, Schuetz J D, Galpin A J, Pui C H, Relling M V, Evans W E
Abstract excerpt
Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase, EC 2.1.1.67) activity exhibits genetic polymorphism, with approximately 0.33% of Caucasians and African-Americans inheriting TPMT deficiency as an autosomal recessive trait. To determine the molecular genetic basis for this polymorphism, we cloned the TPMT cDNA from a TPMT-deficient patient who had developed severe...
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