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Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is associated with mutations affecting complement proteins and regulators and with autoantibodies against complement factor H (CFH). Approximately half of the aHUS patients progress to end-stage renal disease. DNA analysis of the risk factor gene...

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Detalles Bibliográficos
Autores principales:	Volokhina, Elena, Westra, Dineke, Xue, Xiaoguang, Gros, Piet, van de Kar, Nicole, van den Heuvel, Lambert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407361/ https://www.ncbi.nlm.nih.gov/pubmed/22669319 http://dx.doi.org/10.1007/s00467-012-2183-z

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