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Article

Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.

Blood - 22 Aug 2013

Feng Shuju, Eyler Stephen J, Zhang Yuzhou, Maga Tara, Nester Carla M, Kroll Michael H, Smith Richard J, Afshar-Kharghan Vahid

Abstract excerpt

Complement dysregulation leads to atypical hemolytic uremic syndrome (aHUS), while ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura. We investigated whether genetic variations in the ADAMTS13 gene partially explain the reduced activity known to occur in some patients with aHUS. We measured complement activity and ADAMTS13 function, and completed mutation screening of multiple complement genes and...

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Source

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Identifiers

PMID: 23847193
DOI: 10.1182/blood-2013-03-492421
PMCID: PMC3750341

Genes

ADAMTS13

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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