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Article

Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration.

JAMA ophthalmology - 1 Jul 2015

Ferrara Daniela, Seddon Johanna M

Abstract excerpt

IMPORTANCE: The complement factor H R1210C rare variant confers the strongest genetic risk for age-related macular degeneration and earlier age at onset; however, its associated phenotype has not been well characterized. OBJECTIVE: To describe specific fundus features of a white population with the R1210C rare variant. DESIGN, SETTING, AND PARTICIPANTS: Fundus features specific for diagnosis and disease staging...

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Identifiers

PMID: 25880396
DOI: 10.1001/jamaophthalmol.2015.0814
PMCID: PMC6516461

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