Article
TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
Clinical journal of the American Society of Nephrology : CJASN - 1 Jul 2011
Gigante Maddalena, Caridi Gianluca, Montemurno Eustacchio, Soccio Mario, d'Apolito Maria, Cerullo Giuseppina, Aucella Filippo, Schirinzi Annalisa, Emma Francesco, Massella Laura, Messina Giovanni, De Palo Tommaso, Ranieri Elena, Ghiggeri Gian Marco, Gesualdo Loreto
Abstract excerpt
BACKGROUND AND OBJECTIVES: Mutations in the TRPC6 gene have been recently identified as the cause of late-onset autosomal-dominant focal segmental glomerulosclerosis (FSGS). To extend the screening, we analyzed TRPC6 in 33 Italian children with sporadic early-onset SRNS and three Italian families with adult-onset FSGS. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: TRPC6 mutation analysis was performed through...
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