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A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase.

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 genet...

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Detalhes bibliográficos
Main Authors: Krynetski, E Y, Schuetz, J D, Galpin, A J, Pui, C H, Relling, M V, Evans, W E
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC42614/
https://ncbi.nlm.nih.gov/pubmed/7862671
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