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Article

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

American journal of human genetics - 1 Dec 2002

Sánchez-Corral Pilar, Pérez-Caballero David, Huarte Olatz, Simckes Ari M, Goicoechea Elena, López-Trascasa Margarita, de Córdoba Santiago Rodríguez

Abstract excerpt

Genetic studies have demonstrated the involvement of the complement regulator factor H in nondiarrheal, nonverocytotoxin (i.e., atypical) cases of hemolytic uremic syndrome. Different factor H mutations have been identified in 10%-30% of patients with atypical hemolytic uremic syndrome (aHUS), an...

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Identifiers

PMID: 12424708
DOI: 10.1086/344515
PMCID: PMC378565

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12424708-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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