One amino acid makes a difference–Characterization of a new TPMT allele and the influence of SAM on TPMT stability

Thiopurine induced toxicity is associated with defects in the thiopurine methyltransferase (TPMT) gene. TPMT is a polymorphic enzyme, with most of the single nucleotide polymorphisms (SNPs) causing an amino acid change, altering the enzymatic activity of the TPMT protein. In this study, we character...

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Vydáno v:Sci Rep
Hlavní autoři: Iu, Yan Ping Heidi, Helander, Sara, Kahlin, Anna Zimdahl, Cheng, Chun Wah, Shek, Chi Chung, Leung, Moon Ho, Wallner, Björn, Mårtensson, Lars-Göran, Appell, Malin Lindqvist
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5411961/
https://ncbi.nlm.nih.gov/pubmed/28462921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep46428
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