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Article

Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Jan 2018

Goicoechea de Jorge Elena, Tortajada Agustín, García Sheila Pinto, Gastoldi Sara, Merinero Héctor Martín, García-Fernández Jesús, Arjona Emilia, Cao Mercedes, Remuzzi Giuseppe, Noris Marina, Rodríguez de Córdoba Santiago

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS), a rare form of thrombotic microangiopathy caused by complement pathogenic variants, mainly affects the kidney microvasculature. A retrospective genetic analysis in our aHUS cohort (n=513) using multiple ligation probe amplification uncovered nine unrelated patients carrying a genetic abnormality in the complement factor H related 1 gene (CFHR1) that originates by...

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Source

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Identifiers

PMID: 28993505
DOI: 10.1681/ASN.2017050518
PMCID: PMC5748918

Genes

CFHR1
CFH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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