Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

@article{Megremis2009NucleotideVI,
  title={Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.},
  author={Spyridon Megremis and Andromachi J. Mitsioni and Artemis G. Mitsioni and Irene Fylaktou and Sofia Kitsiou-Tzelli and Constantinos J. Stefanidis and Emmanuel Kanavakis and J Traeger-Synodinos},
  journal={Genetic testing and molecular biomarkers},
  year={2009},
  volume={13 2},
  pages={249-56}
}
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 of all nucleotide variations found in patients was also evaluated in 100 unrelated… CONTINUE READING

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