Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
2013
gene. The first patient was homozy-gous for c.1096A>C (p.S366R) mutation in exon 9. Thesecond patient had a complex genotype involving threemutations, the c.1096A>C (p.S366R), a novel 2 bp dele-tion c.649_650delGT and the previously reported c.791C>G(p.P264R); the last two have been inherited in
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