The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
McMahon O, Hallam TM, Patel S, Harris CL, Menny A, Zelek WM, Widjajahakim R, Java A, Cox TE, Tzoumas N, Steel DHW, Shuttleworth VG, Smith-Jackson K, Brocklebank V, Griffiths H, Cree AJ, Atkinson JP, Lotery AJ, Bubeck D, Morgan BP, Marchbank KJ, Seddon JM, Kavanagh D.
McMahon O, et al. Among authors: cox te.
Hum Mol Genet. 2021 Jun 17;30(13):1188-1199. doi: 10.1093/hmg/ddab086.
Hum Mol Genet. 2021.
PMID: 33783477
Free PMC article.