Article
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
Proceedings of the National Academy of Sciences of the United States of America - 19 Feb 2008
Castelletti Federica, Donadelli Roberta, Banterla Federica, Hildebrandt Friedhelm, Zipfel Peter F, Bresin Elena, Otto Edgar, Skerka Christine, Renieri Alessandra, Todeschini Marta, Caprioli Jessica, Caruso Rosa Maria, Artuso Rosangela, Remuzzi Giuseppe, Noris Marina
Abstract excerpt
Glomerulopathy with fibronectin (FN) deposits (GFND) is an autosomal dominant disease with age-related penetrance, characterized by proteinuria, microscopic hematuria, hypertension, and massive glomerular deposits of FN that lead to end-stage renal failure. The genetic abnormality underlying GFND was still unknown. We hypothesized that mutations in FN1, which encodes FN, were the cause of GFND. In a large Italian...
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