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A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Büchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y. Dahan K, et al. Among authors: chauveau d. J Am Soc Nephrol. 2003 Nov;14(11):2883-93. doi: 10.1097/01.asn.0000092147.83480.b5. J Am Soc Nephrol. 2003. PMID: 14569098
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D. Faguer S, et al. Among authors: chauveau d. Kidney Int. 2011 Oct;80(7):768-76. doi: 10.1038/ki.2011.225. Epub 2011 Jul 20. Kidney Int. 2011. PMID: 21775974 Free article.
240 results