Article
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Journal of the American Society of Nephrology : JASN - 1 Jul 2006
Fremeaux-Bacchi Véronique, Moulton Elizabeth A, Kavanagh David, Dragon-Durey Marie-Agnès, Blouin Jacques, Caudy Amy, Arzouk Nadia, Cleper Roxanna, Francois Maud, Guest Genevieve, Pourrat Jacques, Seligman Roland, Fridman Wolf Herman, Loirat Chantal, Atkinson John P
Abstract excerpt
Hemolytic uremic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The non-Shiga toxin-associated HUS (atypical HUS [aHUS]) has been shown to be a disease of complement dysregulation. Mutations in the plasma complement regulators factor H and factor I and the widely expressed membrane cofactor protein (MCP; CD46) have been described...
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