Article
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
Human molecular genetics - 17 Jun 2021
McMahon O, Hallam T M, Patel S, Harris C L, Menny A, Zelek W M, Widjajahakim R, Java A, Cox T E, Tzoumas N, Steel D H W, Shuttleworth V G, Smith-Jackson K, Brocklebank V, Griffiths H, Cree A J, Atkinson J P, Lotery A J, Bubeck D, Morgan B P, Marchbank K J, Seddon J M, Kavanagh D
Abstract excerpt
Age-related macular degeneration (AMD) is a complex neurodegenerative eye disease with behavioral and genetic etiology and is the leading cause of irreversible vision loss among elderly Caucasians. Functionally significant genetic variants in the alternative pathway of complement have been strongly linked to disease. More recently, a rare variant in the terminal pathway of complement has been associated with...
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