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Article

Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.

JAMA ophthalmology - 1 Mar 2016

Saksens Nicole T M, Geerlings Maartje J, Bakker Bjorn, Schick Tina, Daha Mohamed R, Fauser Sascha, Boon Camiel J F, de Jong Eiko K, Hoyng Carel B, den Hollander Anneke I

Abstract excerpt

IMPORTANCE: Rare variants in the complement genes CFH, CFI, C9, and C3 have been found to be highly associated with age-related macular degeneration (AMD); however, the effect on clinical characteristics and familial segregation by these variants is lacking. OBJECTIVES: To determine the contribution of rare CFH Arg1210Cys, CFI Gly119Arg, C9 Pro167Ser, and C3 Lys155Gln variants in the development of AMD in 22...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26767664
DOI: 10.1001/jamaophthalmol.2015.5592

Genes

CFI
CFH

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