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Article

Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome

18 Jun 2017

Abstract excerpt

Mutations in the CD46 gene account for an important proportion of patients with atypical hemolytic uremic syndrome (aHUS) who characteristically show multiple relapses, no response to plasma exchange and low recurrence risk in allograft. We screened for mutations in CD46 in patients with and without circulating anti-factor H (FH) antibodies–associated aHUS. We estimated CD46 surface expression by flow cytometry...

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PMID: 29644059
DOI: 10.1093/ckj/sfx078

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