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  • Title: A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.
    Author: Ozer EA, Aksu N, Erdogan H, Yavascan O, Kara O, Gribouval O, Gubler MC, Antignac C.
    Journal: Nephrology (Carlton); 2004 Oct; 9(5):310-2. PubMed ID: 15504144.
    Abstract:
    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 the Turkish population, screening this novel mutation in Turkish children with SRNS may be of great clinical use to prevent unnecessary treatment modalities, provide accurate genetic counselling and predict the prognosis of the disease.
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