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Article

Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited.

Molecular immunology - 1 Apr 2010

Johnson S A, Williams J M, Hakobyan S, Richards A, Perkins S J, Marchbank K J, Goodship T H J, Morgan B P, Taylor C M, Savage C O S

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is associated with mutations in the gene CFH encoding the complement regulator factor H (CFH). We previously reported a family, in which three individuals had partial CFH deficiency but only one was affected by aHUS. We have investigated this family furth...

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Identifiers

PMID: 20304497
DOI: 10.1016/j.molimm.2009.12.001

Genes

CFH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20304497-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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