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A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI. van de Ven JP, et al. Among authors: blom am. Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19. Nat Genet. 2013. PMID: 23685748
Genetic, molecular and functional analyses of complement factor I deficiency.
Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM. Nilsson SC, et al. Among authors: blom am. Eur J Immunol. 2009 Jan;39(1):310-23. doi: 10.1002/eji.200838702. Eur J Immunol. 2009. PMID: 19065647 Free article.
Complement factor I in health and disease.
Nilsson SC, Sim RB, Lea SM, Fremeaux-Bacchi V, Blom AM. Nilsson SC, et al. Among authors: blom am. Mol Immunol. 2011 Aug;48(14):1611-20. doi: 10.1016/j.molimm.2011.04.004. Epub 2011 Apr 29. Mol Immunol. 2011. PMID: 21529951 Review.
327 results