PMC Links for OMIM (Select 187680) - PMC

Select item 19146891.

Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians.

H. L. Tai, E. Y. Krynetski, C. R. Yates, T. Loennechen, M. Y. Fessing, N. F. Krynetskaia, W. E. Evans

Am J Hum Genet. 1996 Apr; 58(4): 694–702.

PMCID:: PMC1914689

Summary Page Browse PDF–1.9M

Select item 16860862.

Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity

Richard M. Weinshilboum, Susan L. Sladek

Am J Hum Genet. 1980 Sep; 32(5): 651–662.

PMCID:: PMC1686086

Summary Page Browse PDF–1.1M

Select item 11537173.

Human thiopurine S-methyltransferase pharmacogenetics: Variant allozyme misfolding and aggresome formation

Liewei Wang, Tien V. Nguyen, Richard W. McLaughlin, Laura A. Sikkink, Marina Ramirez-Alvarado, Richard M. Weinshilboum

Proc Natl Acad Sci U S A. 2005 Jun 28; 102(26): 9394–9399. Published online 2005 Jun 20. doi: 10.1073/pnas.0502352102

PMCID:: PMC1153717

Abstract Article PDF–596K

Select item 5086554.

Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity.

D M Otterness, C L Szumlanski, T C Wood, R M Weinshilboum

J Clin Invest. 1998 Mar 1; 101(5): 1036–1044. doi: 10.1172/JCI1004

PMCID:: PMC508655

Summary PDF–300K

Select item 426145.

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

E Y Krynetski, J D Schuetz, A J Galpin, C H Pui, M V Relling, W E Evans

Proc Natl Acad Sci U S A. 1995 Feb 14; 92(4): 949–953. doi: 10.1073/pnas.92.4.949

PMCID:: PMC42614

Summary Page Browse PDF–1.2M

Select item 210696.

Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT∗3A, TPMT∗2): Mechanisms for the genetic polymorphism of TPMT activity

Hung-Liang Tai, Eugene Y. Krynetski, Erin G. Schuetz, Yuri Yanishevski, William E. Evans

Proc Natl Acad Sci U S A. 1997 Jun 10; 94(12): 6444–6449. doi: 10.1073/pnas.94.12.6444

PMCID:: PMC21069

Abstract Article PDF–793K

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