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A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry

25 Sept 2013

Abstract excerpt

C3 glomerulopathy describes glomerular pathology associated with predominant deposition of complement C3 including dense deposit disease and C3 glomerulonephritis. Familial C3 glomerulonephritis has been associated with rearrangements affecting the complement factor H-related (CFHR) genes. These include a hybrid CFHR3-1 gene and an internal duplication within the CFHR5 gene. CFHR5 nephropathy, to date, occurred...

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PMID: 24067434
DOI: 10.1038/ki.2013.348

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