Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.

Pharmacogenomics - 1 Nov 2020

Chansavang Albain, Maalej Sadok, Narjoz Céline, Loriot Marie-Anne, Pallet Nicolas

Abstract excerpt

Aim: To assess rare TPMT variants in patients carrying a deficient phenotype not predicted by the four more frequent genotypes (*2, *3A, *3B and *3C). Materials & methods: Next-generation sequencing of TPMT in 39 patients with a discordant genotype. Results: None of the variants identified explained the discordances assuming that they are of uncertain significance according to the Clinical Pharmacogenetics...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Exome Sequencing
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to High-Throughput Nucleotide Sequencing

Share to Introns

Share to Methyltransferases

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 33118454
DOI: 10.2217/pgs-2020-0124

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.PMID 33118454Read ↗

Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.Semantic proximity Read ↗

Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23.Semantic proximity Read ↗

Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms.Semantic proximity Read ↗

Genetic Polymorphism of Thiopurine S-Methyltransferase: Molecular Mechanisms and Clinical ImportanceSemantic proximity Read ↗

Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms.Semantic proximity Read ↗

Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population.Semantic proximity Read ↗

Identification of a novel thiopurine S-methyltransferase allele (TPMT*37).Semantic proximity Read ↗

Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population.Semantic proximity Read ↗

Thiopurine S-Methyltransferase as a Pharmacogenetic Biomarker: Significance of Testing and Review of Major Methods.Semantic proximity Read ↗

Complete sequence-based screening of TPMT variants in the Korean population.Semantic proximity Read ↗

Detection of a novel single nucleotide polymorphism of the human thiopurine s-methyltransferase gene in a Chinese individual.Semantic proximity Read ↗

Isolation of a human thiopurine S-methyltransferase (TPMT) complementary DNA with a single nucleotide transition A719G (TPMT*3C) and its association with loss of TPMT protein and catalytic activity in humans.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.