A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry
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Pickering, 2008, Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals, Clin Exp Immunol, 151, 210, 10.1111/j.1365-2249.2007.03574.x
Barbour, 2013, Recent insights into C3 glomerulopathy, Nephrol Dialysis Transplantation, 28, 1685, 10.1093/ndt/gfs430
Gale, 2010, Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis, Lancet, 376, 794, 10.1016/S0140-6736(10)60670-8
Malik, 2012, A hybrid CFHR3-1 gene causes familial C3 glomerulopathy, J Am Soc Nephrol, 23, 1155, 10.1681/ASN.2012020166
Athanasiou, 2011, Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees, Clin J e Am Soc Nephrol, 6, 1436, 10.2215/CJN.09541010
McRae, 2002, Location and structure of the human FHR-5 gene, Genetica, 114, 157, 10.1023/A:1015114512924
Zipfel, 2002, Factor H family proteins: on complement, microbes and human diseases, Biochem Soc Trans, 30, 971, 10.1042/bst0300971
Goicoechea de Jorge, 2013, Dimerization of complement factor H-related proteins modulates complement activation in vivo, Proc Natl Acad Sci USA, 110, 4685, 10.1073/pnas.1219260110
Gharavi, 2011, Genome-wide association study identifies susceptibility loci for IgA nephropathy, Nat Genet, 43, 321, 10.1038/ng.787