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Article

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.

Journal of human genetics - 1 Jul 2012

Westra Dineke, Vernon Katherine A, Volokhina Elena B, Pickering Matthew C, van de Kar Nicole C A J, van den Heuvel Lambert P

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a severe renal disorder that is associated with mutations in genes encoding proteins of the alternative complement pathway. Previously, we identified pathogenic variations in genes encoding complement regulators (CFH, CFI and MCP) in our aHUS cohort. In this study, we screened for mutations in the alternative pathway regulator CFHR5 in 65 aHUS patients by means of PCR...

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Source

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Identifiers

PMID: 22622361
DOI: 10.1038/jhg.2012.57
PMCID: PMC3407369

Genes

CFHR5
CFH
CFI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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