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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society of Hematology 2008
الموضوعات:
Hemostasis, Thrombosis, and Vascular Biology
الوصول للمادة أونلاين: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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