Article
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.
American journal of human genetics - 5 Aug 2021
Cipriani Valentina, Tierney Anna, Griffiths John R, Zuber Verena, Sergouniotis Panagiotis I, Yates John R W, Moore Anthony T, Bishop Paul N, Clark Simon J, Unwin Richard D
Abstract excerpt
Age-related macular degeneration (AMD) is a leading cause of vision loss; there is strong genetic susceptibility at the complement factor H (CFH) locus. This locus encodes a series of complement regulators: factor H (FH), a splice variant factor-H-like 1 (FHL-1), and five factor-H-related proteins (FHR-1 to FHR-5), all involved in the regulation of complement factor C3b turnover. Little is known about how...
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