Article
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
Genetic testing and molecular biomarkers - 1 Apr 2009
Megremis Spyridon, Mitsioni Andromachi, Mitsioni Artemis G, Fylaktou Irene, Kitsiou-Tzelli Sofia, Stefanidis Constantinos J, Kanavakis Emmanuel, Traeger-Synodinos Joanne
Abstract excerpt
Mutations in the NPHS2 gene, encoding podocin, are a major cause of autosomal-recessive steroid-resistant nephrotic syndrome (SRNS) in childhood, accounting for up to 30% of sporadic and 20-40% of familial cases. Among 22 Greek children with a clinical diagnosis of SRNS, mutation analysis was performed in all eight NPHS2 gene exons, using denaturing gradient gel electrophoresis and DNA sequencing. The frequency...
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