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Article

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.

The Journal of clinical investigation - 1 Apr 2003

Manuelian Tamara, Hellwage Jens, Meri Seppo, Caprioli Jessica, Noris Marina, Heinen Stefan, Jozsi Mihaly, Neumann Hartmut P H, Remuzzi Giuseppe, Zipfel Peter F

Abstract excerpt

Hemolytic uremic syndrome (HUS) is a disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Recent studies have identified a factor H-associated form of HUS, caused by gene mutations that cluster in the C-terminal region of the complement regulator factor H. Here we report how three mutations (E1172Stop, R1210C, and R1215G; each of the latter two identified in three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12697737
DOI: 10.1172/JCI16651
PMCID: PMC152934

Provenance

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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Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.PMID 12697737Read ↗

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Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.Semantic proximity Read ↗

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