Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children. Mutations in one or more genes encoding complement-regulatory proteins have been reported in approximately one-third of nondiarrheal, atypical HUS (aHUS) patients, suggesting a defect in the protection of cell...

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Autors principals: de Jorge, Elena Goicoechea, Harris, Claire L., Esparza-Gordillo, Jorge, Carreras, Luis, Arranz, Elena Aller, Garrido, Cynthia Abarrategui, López-Trascasa, Margarita, Sánchez-Corral, Pilar, Morgan, B. Paul, de Córdoba, Santiago Rodríguez
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2007
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1765442/
https://ncbi.nlm.nih.gov/pubmed/17182750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0603420103
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