Article
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.
Genes and immunity - 1 Mar 2011
Schejbel L, Schmidt I M, Kirchhoff M, Andersen C B, Marquart H V, Zipfel P, Garred P
Abstract excerpt
Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient chil...
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