Article
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Kidney international - 1 Apr 2009
Tory Kálmán, Rousset-Rouvière Caroline, Gubler Marie-Claire, Morinière Vincent, Pawtowski Audrey, Becker Céline, Guyot Claude, Gié Sophie, Frishberg Yaacov, Nivet Hubert, Deschênes Georges, Cochat Pierre, Gagnadoux Marie-France, Saunier Sophie, Antignac Corinne, Salomon Rémi
Abstract excerpt
Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy. Mutations in the INVS (NPHP2) gene were found in a few patients with infantile nephronophthisis. Mutations of NPHP3, known to be associated with adolescent nephronophthisis, were found in two patients with early-onset ESRD. Here we screened 43...
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