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Article

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Immunobiology - 1 Oct 2016

Gleeson Patrick J, Wilson Valerie, Cox Thomas E, Sharma Seema D, Smith-Jackson Kate, Strain Lisa, Lappin David, McHale Teresa, Kavanagh David, Goodship Timothy H J

Abstract excerpt

Chromosomal rearrangements affecting the genes encoding complement factor H and the factor H related proteins have been described in aHUS patients. To date such disorders have not been described in other aHUS associated genes. We describe here a heterozygous 875,324bp deletion encompassing the gene (CFI) encoding complement factor I and ten other genes. The index case presented with aHUS and did not recover renal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27268256
DOI: 10.1016/j.imbio.2016.05.002

Genes

CFI

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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