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Article

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.

Frontiers in immunology - 1 Jan 2020

Wong Edwin K S, Hallam Thomas M, Brocklebank Vicky, Walsh Patrick R, Smith-Jackson Kate, Shuttleworth Victoria G, Cox Thomas E, Anderson Holly E, Barlow Paul Nigel, Marchbank Kevin James, Harris Claire L, Kavanagh David

Abstract excerpt

Membranoproliferative glomerulonephritis (MPGN), C3 glomerulopathy (C3G), atypical haemolytic uraemic syndrome (aHUS) and age-related macular degeneration (AMD) have all been strongly linked with dysfunction of the alternative pathway (AP) of complement. A significant proportion of individuals with MPGN, C3G, aHUS and AMD carry rare genetic variants in the CFH gene that cause functional or quantitative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33519811
DOI: 10.3389/fimmu.2020.602284
PMCID: PMC7840601

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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