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Article

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.

Blood - 15 Jan 2008

Fang Celia J, Fremeaux-Bacchi Veronique, Liszewski M Kathryn, Pianetti Gaia, Noris Marina, Goodship Timothy H J, Atkinson John P

Abstract excerpt

The hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies demonstrate that heterozygous mutations of membrane cofactor protein (MCP;CD46) predispose to atypical HUS (aHUS), which is not associated with exposure to Shiga toxin (Stx). Among the initial 25 MCP mutations in patients with aHUS were 2, R69W and A304V, that were expressed...

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Identifiers

PMID: 17914026
DOI: 10.1182/blood-2007-04-084533
PMCID: PMC2200836

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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