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Article

Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.

Blood - 15 Jan 2004

Pimanda John E, Maekawa Akiko, Wind Troels, Paxton Julian, Chesterman Colin N, Hogg Philip J

Abstract excerpt

Severe deficiency of the von Willebrand Factor (VWF)-cleaving proteinase, ADAMTS13, is associated with the development of thrombotic thrombocytopenic purpura (TTP). Several mutations spread across the ADAMTS13 gene have been identified in association with a deficiency of VWF-cleaving proteinase activity in patients with congenital TTP. The spread of these dysfunctional mutations and the domain structure of...

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Source

Identifiers

PMID: 14512317
DOI: 10.1182/blood-2003-04-1346

Genes

ADAMTS13
VWF

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.

Related research

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Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.PMID 14512317Read ↗

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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

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Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.Semantic proximity Read ↗

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