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Article

Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.

Kidney international - 1 Mar 2006

Vaziri-Sani F, Holmberg L, Sjöholm A G, Kristoffersson A-C, Manea M, Frémeaux-Bacchi V, Fehrman-Ekholm I, Raafat R, Karpman D

Abstract excerpt

We investigated the phenotypic expression of factor H mutations in two patients with atypical hemolytic uremic syndrome (HUS). Factor H in serum was assayed by rocket immunoelectrophoresis, immunoblotting, and double immunodiffusion and in tissue by immunohistochemistry. Functional activity was analyzed by hemolysis of sheep erythrocytes and binding to endothelial cells. A homozygous mutation in complement...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16528247
DOI: 10.1038/sj.ki.5000155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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