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Article

Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.

Human molecular genetics - 1 Aug 2018

Kremlitzka Mariann, Geerlings Maartje J, de Jong Sarah, Bakker Bjorn, Nilsson Sara C, Fauser Sascha, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke I, Blom Anna M

Abstract excerpt

Age-related macular degeneration (AMD) is a progressive disease of the central retina and the leading cause of irreversible vision loss in the western world. The involvement of abnormal complement activation in AMD has been suggested by association of variants in genes encoding complement proteins with disease development. A low-frequency variant (p.P167S) in the complement component C9 (C9) gene was recently...

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PMID: 29767720
DOI: 10.1093/hmg/ddy178

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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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