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Article

Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

Journal of thrombosis and haemostasis : JTH - 1 Mar 2004

Veyradier A, Lavergne J-M, Ribba A-S, Obert B, Loirat C, Meyer D, Girma J-P

Abstract excerpt

ADAMTS13, the specific von Willebrand factor (VWF)-cleaving metalloprotease, prevents the spontaneous formation of platelet thrombi in the microcirculation by degrading the highly adhesive ultralarge VWF multimers into smaller forms. ADAMTS13 severe enzymatic deficiency and mutations have been described in the congenital thrombotic thrombocytopenic purpura (TTP or Upshaw-Schulman syndrome), a rare and severe...

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Source

Identifiers

PMID: 15009458
DOI: 10.1111/j.1538-7933.2004.00623.x

Genes

ADAMTS13
VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).PMID 15009458Read ↗

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