Associated Papers
A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.
Saxena S et al.
Scientific Reports, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
Goljan E et al.
Plos One, 2022
Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT.
Harmand PO et al.
Genes, 2020
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc
In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8.
Wennerstrand P et al.
Acs Omega, 2017
Structural and functional impact of missense mutations in TPMT: An integrated computational approach.
Fazel-Najafabadi E et al.
Computational Biology and Chemistry, 2015
Nomenclature for alleles of the thiopurine methyltransferase gene.
Appell ML et al.
Pharmacogenetics and Genomics, 2013
Characterisation of novel defective thiopurine S-methyltransferase allelic variants.
Garat A et al.
Biochemical Pharmacology, 2008
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