Article
A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.
Nephrology (Carlton, Vic.) - 1 Oct 2004
Ozer Esra Arun, Aksu Nejat, Erdogan Hakan, Yavascan Onder, Kara Orhan, Gribouval Olivier, Gubler Marie-Claire, Antignac Corinne
Abstract excerpt
We report in this paper two siblings aged 8 and 17 months who were clinically diagnosed with familial steroid-resistant nephrotic syndrome (SRNS). By mutation screening of the NPHS2 gene, a homozygous missense mutation, P118L, was detected in both children. This study is the first systematic investigation of NPHS2 gene mutations in Turkish children with familial SRNS. If this mutation is a hot spot of mutation in...
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