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Article

Expanding the spectrum of NPHS1-associated disease.

Kidney international - 1 Dec 2009

Pollak Martin R

Abstract excerpt

The nephrin gene NPHS1 was cloned in 1998. Studies in families with congenital nephrotic syndrome led to the identification of this critical component of the glomerular slit diaphragm. Studies such as the new one by Santín et al. are expanding our understanding of the spectrum of disease associated with NPHS1 mutations.

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Topics

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Share to NPHS1 gene
Share to Glomerulosclerosis, Focal Segmental
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19946311
DOI: 10.1038/ki.2009.391

Genes

NPHS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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