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Article

In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.

Thrombosis and haemostasis - 1 Oct 2006

Donadelli Roberta, Banterla Federica, Galbusera Miriam, Capoferri Cristina, Bucchioni Sara, Gastoldi Sara, Nosari Silvia, Monteferrante Giuseppe, Ruggeri Zaverio M, Bresin Elena, Scheiflinger Friedrich, Rossi Edoardo, Martinez Constantino, Coppo Rosanna, Remuzzi Giuseppe, Noris Marina

Abstract excerpt

Thrombotic thrombocytopenic purpura (TTP) is a disease characterized by microvascular thrombosis, often associated with deficiency of the vonWillebrand factor (VWF) cleaving protease ADAMTS13. We investigated the spectrum of ADAMTS13 gene mutations in patients with TTP and congenital ADAMTS13 deficiency to establish the consequences on ADAMTS13 processing and activity. We describe five missense (V88M, G1239V,...

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Source

Identifiers

PMID: 17003922

Genes

ADAMTS13
VWF

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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