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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Bibliografiska uppgifter
Huvudupphovsmän: Volokhina, Elena, Westra, Dineke, Xue, Xiaoguang, Gros, Piet, van de Kar, Nicole, van den Heuvel, Lambert
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer-Verlag 2012
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Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407361/
https://ncbi.nlm.nih.gov/pubmed/22669319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-012-2183-z
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