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Article

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 1 May 2011

Santín Sheila, Bullich Gemma, Tazón-Vega Bárbara, García-Maset Rafael, Giménez Isabel, Silva Irene, Ruíz Patricia, Ballarín José, Torra Roser, Ars Elisabet

Abstract excerpt

BACKGROUND AND OBJECTIVES: The increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic variability, and the uncharacterized relative frequency of mutations in these genes in pediatric and adult patients with SRNS complicate their routine genetic analysis. Our aim was to compile the clinical and genetic data of eight podocyte genes analyzed in 110...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21415313
DOI: 10.2215/CJN.05260610
PMCID: PMC3087781

Genes

NPHS1
NPHS2
ACTN4
INF2
PLCE1
TRPC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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