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Article

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

5 Jun 2012

Abstract excerpt

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 genes is important for prognosis of aHUS recurrence after renal transplantation. METHODS: Mutational screening of C3...

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PMID: 22669319
DOI: 10.1007/s00467-012-2183-z

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