Mutations in FN1 cause glomerulopathy with fibronectin deposits

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 wa...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2008
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2268172/
https://ncbi.nlm.nih.gov/pubmed/18268355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0707730105
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