Article
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jul 2010
Westra Dineke, Volokhina Elena, van der Heijden Eefje, Vos Annemieke, Huigen Marleen, Jansen Jitske, van Kaauwen Edwin, van der Velden Thea, van de Kar Nicole, van den Heuvel Lambert
Abstract excerpt
BACKGROUND: Atypical HUS (aHUS) is thought to be caused by predisposing mutations in genes encoding complement (regulating) proteins, such as Factor H (CFH), Factor I (IF), membrane co-factor protein (MCP) and Factor B (FB), or by auto-antibodies against CFH (alphaFH) in combination with a homozygous polymorphic deletion of the genes encoding Complement Factor H-related 1 and 3 (DeltaCFHR1/3). The clinical impact...
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