Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia and renal failure(1). Atypical HUS (aHUS) can result from genetic or autoimmune factors(2) that lead to p...

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Detalles Bibliográficos
Autores principales: Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719402/
https://www.ncbi.nlm.nih.gov/pubmed/23542698
http://dx.doi.org/10.1038/ng.2590

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719402/
https://www.ncbi.nlm.nih.gov/pubmed/23542698
http://dx.doi.org/10.1038/ng.2590

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