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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: nilsson sc. Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19. Nat Genet. 2013. PMID: 23685748
Complement factor I in health and disease.
Nilsson SC, Sim RB, Lea SM, Fremeaux-Bacchi V, Blom AM. Nilsson SC, et al. 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.
Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.
Mohlin FC, Nilsson SC, Levart TK, Golubovic E, Rusai K, Müller-Sacherer T, Arbeiter K, Pállinger É, Szarvas N, Csuka D, Szilágyi Á, Villoutreix BO, Prohászka Z, Blom AM. Mohlin FC, et al. Among authors: nilsson sc. Mol Immunol. 2015 Jun;65(2):367-76. doi: 10.1016/j.molimm.2015.02.013. Epub 2015 Feb 28. Mol Immunol. 2015. PMID: 25733390
23 results