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Article

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Jan 2014

Bu Fengxiao, Maga Tara, Meyer Nicole C, Wang Kai, Thomas Christie P, Nester Carla M, Smith Richard J H

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by uncontrolled activation of the alternative pathway of complement at the cell surface level that leads to microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. In approximately one half of affected patients, pathogenic loss-of-function variants in regulators of complement or gain-of-function variants in...

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Identifiers

PMID: 24029428
DOI: 10.1681/ASN.2013050453
PMCID: PMC3871781

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PLG

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