Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component...

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Main Authors: Frémeaux-Bacchi, Veronique, Miller, Elizabeth C., Liszewski, M. Kathryn, Strain, Lisa, Blouin, Jacques, Brown, Alison L., Moghal, Nadeem, Kaplan, Bernard S., Weiss, Robert A., Lhotta, Karl, Kapur, Gaurav, Mattoo, Tej, Nivet, Hubert, Wong, William, Gie, Sophie, de Ligny, Bruno Hurault, Fischbach, Michel, Gupta, Ritu, Hauhart, Richard, Meunier, Vincent, Loirat, Chantal, Dragon-Durey, Marie-Agnès, Fridman, Wolf H., Janssen, Bert J. C., Goodship, Timothy H. J., Atkinson, John P.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Hemostasis, Thrombosis, and Vascular Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597601/
https://ncbi.nlm.nih.gov/pubmed/18796626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2008-01-133702
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