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Article

Association assessment of copy number polymorphism and risk of age-related macular degeneration.

Ophthalmology - 1 Dec 2011

Sawitzke Julie, Im Kate M, Kostiha Brittany, Dean Michael, Gold Bert

Abstract excerpt

PURPOSE: We previously identified a genetic copy number polymorphism (CNP147) that was statistically associated with age-related macular degeneration (AMD) and that resides downstream of the complement factor H (CFH) gene. Factor H protein is polymorphic at amino acid 402, in which the resulting histidine containing moiety has been established to impart significant risk of AMD. We present a method to precisely...

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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: 21856016
DOI: 10.1016/j.ophtha.2011.05.027
PMCID: PMC3223559

Genes

CFH

Variants

rs1061170

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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