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Article

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.

JAMA ophthalmology - 1 Jan 2017

Geerlings Maartje J, Kremlitzka Mariann, Bakker Bjorn, Nilsson Sara C, Saksens Nicole T, Lechanteur Yara T, Pauper Marc, Corominas Jordi, Fauser Sascha, Hoyng Carel B, Blom Anna M, de Jong Eiko K, den Hollander Anneke I

Abstract excerpt

IMPORTANCE: In age-related macular degeneration (AMD), rare variants in the complement system have been described, but their functional consequences remain largely unexplored. OBJECTIVES: To identify new rare variants in complement genes and determine the functional effect of identified variants on complement levels and complement regulation in serum samples from carriers and noncarriers. DESIGN, SETTING, AND...

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Source

Identifiers

PMID: 27918759
DOI: 10.1001/jamaophthalmol.2016.4604

Genes

CFH
CFI

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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