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Article

Genetic defects leading to hereditary thrombotic thrombocytopenic purpura.

Seminars in hematology - 1 Jan 2004

Kokame Koichi, Miyata Toshiyuki

Abstract excerpt

In patients with thrombotic thrombocytopenic purpura (TTP), unusually large multimers of von Willebrand factor (VWF) circulate in the plasma. This is caused by a functional deficiency of VWF-cleaving protease, ADAMTS-13. Although TTP usually occurs as an acquired form due to autoantibodies against ADAMTS-13, the condition may be inherited in an autosomal recessive fashion. Thus far, genomic DNA from 23 patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14727257
DOI: 10.1053/j.seminhematol.2003.10.002

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.

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