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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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Detalles Bibliográficos
Autores principales: Westra, Dineke, Vernon, Katherine A., Volokhina, Elena B., Pickering, Matthew C., van de Kar, Nicole C.A.J., van den Heuvel, Lambert P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407369/
https://www.ncbi.nlm.nih.gov/pubmed/22622361
http://dx.doi.org/10.1038/jhg.2012.57