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: pirson y.
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