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Article

In vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain.

Journal of thrombosis and haemostasis : JTH - 1 Mar 2023

De Waele Laure, Vermeersch Lisa, Nguyen Truong Tien, Tersteeg Claudia, De Meyer Simon F, Voet Arnout, Pavenski Katerina, Vanhoorelbeke Karen

Abstract excerpt

BACKGROUND: Congenital thrombotic thrombocytopenic purpura is caused by defects in the ADAMTS13 gene. ADAMTS13 is normally preactivated by conformational changes of the Metalloprotease (M) domain. Studying a novel congenital thrombotic thrombocytopenic purpura p.R102S mutation in the M domain, which results in undetectable ADAMTS13 activity in the patient, could help to explain the patients' phenotype and to...

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Identifiers

PMID: 36696198
DOI: 10.1016/j.jtha.2022.12.003

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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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