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Article

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Clinical genetics - 1 Oct 2018

Geerlings M J, Volokhina E B, de Jong E K, van de Kar N, Pauper M, Hoyng C B, van den Heuvel L P, den Hollander A I

Abstract excerpt

Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and age-related macular degeneration (AMD). We performed sequence analysis of the complement genes complement factor H (CFH), complement factor I (CFI), and complement C3 (C3) in 866 aHUS/C3G and 697 AMD patients. In total, we identified 505...

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Share to Atypical Hemolytic Uremic Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement C3

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Share to Genetic Predisposition to Disease

Share to Glomerulonephritis, Membranous

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Source

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Identifiers

PMID: 29888403
DOI: 10.1111/cge.13392
PMCID: PMC6175426

Genes

CFH
CFI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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