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Article

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Human mutation - 1 Jan 2010

Lotta Luca A, Garagiola Isabella, Palla Roberta, Cairo Andrea, Peyvandi Flora

Abstract excerpt

Congenital thrombotic thrombocytopenic purpura (TTP) (also known as Upshaw-Schulman syndrome, USS) is a rare, life-threatening disease characterized by thrombocytopenia and microangiopathic hemolytic anemia, associated with the deficiency of the von Willebrand factor-cleaving protease (ADAMTS13) due to mutations in the corresponding gene. The spectrum of clinical phenotype in congenital TTP is wide, encompassing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19847791
DOI: 10.1002/humu.21143

Genes

ADAMTS13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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