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Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L, van Beek AE, Willems E, Zandstra J, van Mierlo G, Einhaus A, Mary JL, Stucki C, Bakker B, Hoyng CB, Fauser S, Clark SJ, de Jonge MI, Nogoceke E, Koertvely E, Jongerius I, Kuijpers TW, den Hollander AI. Lorés-Motta L, et al. Am J Hum Genet. 2021 Aug 5;108(8):1367-1384. doi: 10.1016/j.ajhg.2021.06.002. Epub 2021 Jul 13. Am J Hum Genet. 2021. PMID: 34260947 Free PMC article.
The eye as a complement dysregulation hotspot.
Clark SJ, Bishop PN. Clark SJ, et al. Semin Immunopathol. 2018 Jan;40(1):65-74. doi: 10.1007/s00281-017-0649-6. Epub 2017 Sep 25. Semin Immunopathol. 2018. PMID: 28948331 Free PMC article. Review.