Article

Potentially protein-destabilizing C3 polymorphism in a case of atypical hemolytic uremic syndrome with life-threatening extrarenal manifestations

2023-10-31

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease caused by uncontrolled complement activation. It is frequently associated with a genetic factor including various polymorphisms at the C3 gene locus; however, no functional amino acid substitution in the C-terminal domain has been reported. We experienced a pediatric case of aHUS with...

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Literature Corpus work: 6f84fd59-9252-5116-a66e-a18c87379d13
DOI: 10.21203/rs.3.rs-3503971/v1

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