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  • Title: Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.
    Author: Ardiles LG, Carrasco AE, Carpio JD, Mezzano SA.
    Journal: Nephrology (Carlton); 2005 Dec; 10(6):553-6. PubMed ID: 16354237.
    Abstract:
    A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non-neutral polymorphism R229Q in exon 5. We review literature supporting the genetic basis of the disease.
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