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Article

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.

Blood - 12 Jan 2012

Francis Nigel J, McNicholas Bairbre, Awan Atif, Waldron Mary, Reddan Donal, Sadlier Denise, Kavanagh David, Strain Lisa, Marchbank Kevin J, Harris Claire L, Goodship Timothy H J

Abstract excerpt

Genomic disorders affecting the genes encoding factor H (fH) and the 5 factor H related proteins have been described in association with atypical hemolytic uremic syndrome. These include deletions of CFHR3, CFHR1, and CFHR4 in association with fH autoantibodies and the formation of a hybrid CFH/CFHR1 gene. These occur through nonallelic homologous recombination secondary to the presence of large segmental...

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Source

Identifiers

PMID: 22058112
DOI: 10.1182/blood-2011-03-339903

Genes

CFH
CFHR3
CFHR1
CFHR4

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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