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Article

[NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome].

Revista chilena de pediatria - 1 Jan 2000

Azocar Marta, Vega Álvaro, Farfán Mauricio, Cano Francisco

Abstract excerpt

UNLABELLED: Podocin is a protein located in the glomerular slit diaphragm where it takes part in the regulation of glomerular filtration. Mutations of the NPHS2 gene that codes podocin are the main cause of autosomal recessive steroid resistant nephrotic syndrome (SRNS). OBJECTIVES: To identify the NPHS2 mutations in Chilean children with SRNS, and to determine the prevalence of the most common variants in a...

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Identifiers

PMID: 26455708
DOI: 10.1016/j.rchipe.2015.06.025

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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