Article
Broadening the spectrum of diseases related to podocin mutations.
Journal of the American Society of Nephrology : JASN - 1 May 2003
Caridi Gianluca, Bertelli Roberta, Di Duca Marco, Dagnino Monica, Emma Francesco, Onetti Muda Andrea, Scolari Francesco, Miglietti Nunzia, Mazzucco Gianna, Murer Luisa, Carrea Alba, Massella Laura, Rizzoni Gianfranco, Perfumo Francesco, Ghiggeri Gian Marco
Abstract excerpt
A total of 179 children with sporadic nephrotic syndrome were screened for podocin mutations: 120 with steroid resistance, and 59 with steroid dependence/frequent relapses. Fourteen steroid-resistant patients presented homozygous mutations that were associated with early onset of proteinuria and...
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