Article
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
Clinical journal of the American Society of Nephrology : CJASN - 1 Feb 2011
Santín Sheila, Tazón-Vega Bárbara, Silva Irene, Cobo María Ángeles, Giménez Isabel, Ruíz Patricia, García-Maset Rafael, Ballarín José, Torra Roser, Ars Elisabet
Abstract excerpt
BACKGROUND AND OBJECTIVES: To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS after 18 years of age....
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