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Article

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Human mutation - 1 May 2001

Beltcheva O, Martin P, Lenkkeri U, Tryggvason K

Abstract excerpt

Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. The disease is most common in Finland, but many patients have been identified in other populations. The disease is caused by mutations in the gene for nephrin which is a key component of the glomerual ultrafilter, the podocyte...

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Source

Identifiers

PMID: 11317351
DOI: 10.1002/humu.1111

Genes

NPHS1

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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