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Article

SNPs in ADAMTS13.

Pharmacogenomics - 1 Aug 2011

Tseng Sandra Chang, Kimchi-Sarfaty Chava

Abstract excerpt

The multidomain metalloprotease ADAMTS13 limits thrombus formation via the cleavage of large multimeric forms of von Willebrand factor. Deficiency of functional ADAMTS13 is associated with a number of disease pathologies including thrombotic thrombocytopenic purpura, cardiovascular disease and inflammation. To date, deficiency is known to result from mutations in the ADAMTS13 gene or from inhibitory and...

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Identifiers

PMID: 21843064
DOI: 10.2217/pgs.11.66

Genes

ADAMTS13

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SNPs in ADAMTS13.PMID 21843064Read ↗

Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levelsSemantic proximity Read ↗

Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.Semantic proximity Read ↗

Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis.Semantic proximity Read ↗

Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.Semantic proximity Read ↗

Rare Variants in the ADAMTS13 Von Willebrand Factor-Binding Domain Contribute to Pediatric Stroke.Semantic proximity Read ↗

[Genetic polymorphism of von Willebrand factor (VWF)-cleaving protease, ADAMTS13].Semantic proximity Read ↗

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.Semantic proximity Read ↗

Genetic Variation in ADAMTS13 is Related to VWF Levels, Atrial Fibrillation and Cerebral Ischemic Events.Semantic proximity Read ↗

Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family.Semantic proximity Read ↗

Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.Semantic proximity Read ↗

ADAMTS13 and von Willebrand factor in thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

Thirty five novel nsSNPs may effect on <i>ADAMTS13</i> protein leading to Thrombotic thrombocytopenic purpura (TTP) using bioinformatics approachSemantic proximity Read ↗

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