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Article

Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.

PloS one - 1 Jan 2016

Pagliari Maria Teresa, Lotta Luca A, de Haan Hugoline G, Valsecchi Carla, Casoli Gloria, Pontiggia Silvia, Martinelli Ida, Passamonti Serena M, Rosendaal Frits R, Peyvandi Flora

Abstract excerpt

BACKGROUND: Deep vein thrombosis (DVT) genetic predisposition is partially known. OBJECTIVES: This study aimed at assessing the functional impact of nine ADAMTS13 single nucleotide variants (SNVs) previously reported to be associated as a group with DVT in a burden test and the individual association of selected variants with DVT risk in two replication studies. METHODS: Wild-type and mutant recombinant ADAMTS13...

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Open in PubMed Open full text

Identifiers

PMID: 27802307
DOI: 10.1371/journal.pone.0165665
PMCID: PMC5089687

Genes

ADAMTS13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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