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Article

Copy number variation in the complement factor H-related genes and age-related macular degeneration.

Molecular vision - 1 Jan 2011

Kubista Katharina E, Tosakulwong Nirubol, Wu Yanhong, Ryu Euijung, Roeder Jaime L, Hecker Laura A, Baratz Keith H, Brown William L, Edwards Albert O

Abstract excerpt

PURPOSE: To determine the contribution of copy number variation (CNV) in the regulation of complement activation (RCA) locus to the development of age-related macular degeneration (AMD). METHODS: A multiplex ligation-dependent probe amplification assay was developed to quantify the number of copies of CFH, CFHR3, CFHR1, CFHR4, CFHR2, and CFHR5 in humans. Subjects with (451) and without (362) AMD were genotyped...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21850184
PMCID: PMC3156785

Genes

CFHR1
CFHR3
CFH
CFHR2
CFHR4
CFHR5

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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