Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis 
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CONCLUSION: In these patients with familial or sporadic FSGS, the prevalence of p.R229Q and p.A242V variants in children was 5% and in adults 12.9%. More studies of patients with FSGS could better define a strategy for genetic analysis and therapeutic management.
PMID: 32691731 [PubMed - as supplied by publisher]

Source: Clinical Nephrology - July 20, 2020 Category: Urology & Nephrology Authors: de Almeida R, da Silva WC, Garbin HI, Itaquy TP, Dos Santos Pereira F, Garcia CD, Keitel E, Sales Luiz Vianna F, Veronese FV Tags: Clin Nephrol Source Type: research