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A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V. Lhotta K, et al. Among authors: scheiring j. Clin J Am Soc Nephrol. 2009 Aug;4(8):1356-62. doi: 10.2215/CJN.06281208. Epub 2009 Jul 9. Clin J Am Soc Nephrol. 2009. PMID: 19590060 Free PMC article.