A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal …

K Lhotta, AR Janecke, J Scheiring… - Clinical Journal of the …, 2009 - journals.lww.com
Background and objectives: Atypical hemolytic uremic syndrome (aHUS) is associated with
mutations in genes encoding complement-regulatory proteins factor H, I and B and
membrane cofactor protein. Recently, heterozygous gain-of-function mutations in the
complement C3 gene have been found in patients with aHUS.