C3 glomerulopathy
Definition:
References:
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[1]. Amanda K Heiderscheit, et al. C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):344-357. [Content Brief]
[2]. B H Ault, et al. Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. J Biol Chem. 1997 Oct 3;272(40):25168-75. [Content Brief]
[3]. Daniel P Gale, et al. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet. 2010 Sep 4;376(9743):794-801. [Content Brief]
[4]. T J Vyse, et al. The molecular basis of hereditary complement factor I deficiency. J Clin Invest. 1996 Feb 15;97(4):925-33. [Content Brief]
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