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 ge...
Topics
- Alleles
- Base Sequence
- Catalysis
- Child
- Cloning, Molecular
- DNA, Complementary
- Female
- Genotype
- Humans
- Methyltransferases
- Molecular Sequence Data
- Point Mutation
- Polymorphism, Restriction Fragment Length
- RNA, Messenger
- Saccharomyces cerevisiae
- Transcription, Genetic