Complement Factor B Mutations in Atypical Hemolytic Uremic Syndrome—Disease-Relevant or Benign?

Atypical hemolytic uremic syndrome (aHUS) is a genetic ultrarare renal disease associated with overactivation of the alternative pathway of complement. Four gain-of-function mutations that form a hyperactive or deregulated C3 convertase have been identified in Factor B (FB) ligand binding sites. Her...

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Détails bibliographiques
Auteurs principaux: Marinozzi, Maria Chiara, Vergoz, Laura, Rybkine, Tania, Ngo, Stephanie, Bettoni, Serena, Pashov, Anastas, Cayla, Mathieu, Tabarin, Fanny, Jablonski, Mathieu, Hue, Christophe, Smith, Richard J., Noris, Marina, Halbwachs-Mecarelli, Lise, Donadelli, Roberta, Fremeaux-Bacchi, Veronique, Roumenina, Lubka T.
Format: Artigo
Langue:Inglês
Publié: American Society of Nephrology 2014
Sujets:
Basic Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4147975/
https://ncbi.nlm.nih.gov/pubmed/24652797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013070796
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