Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

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: M...

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Detaylı Bibliyografya
Asıl Yazarlar: Santín, Sheila, Tazón-Vega, Bárbara, Silva, Irene, Cobo, María Ángeles, Giménez, Isabel, Ruíz, Patricia, García-Maset, Rafael, Ballarín, José, Torra, Roser, Ars, Elisabet
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society of Nephrology 2011
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3052225/
https://ncbi.nlm.nih.gov/pubmed/20947785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.03770410
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