ATYPICAL HEMOLYTIC UREMIC SYNDROME AND GENETIC ABERRATIONS IN THE COMPLEMENT FACTOR H RELATED 5 GENE

Atypical HUS (aHUS) is a severe renal disorder that is associated with mutations in the genes encoding proteins of the complement alternative pathway. Previously, we identified pathogenic variations in genes encoding complement regulators (CFH, CFI, and MCP) in our aHUS cohort. In this study, we scr...

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Main Authors: Westra, Dineke, Vernon, Katherine A., Volokhina, Elena B., Pickering, Matthew C., van de Kar, Nicole C.A.J., van den Heuvel, Lambert P.
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407369/
https://ncbi.nlm.nih.gov/pubmed/22622361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2012.57
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