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Article

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.

Journal of nephrology - 1 Jan 2000

Gigante Maddalena, Monno Fausta, Roberto Roberta, Laforgia Nicola, Assael Maurice Barouk, Livolti Salvatore, Caringella Angela, La Manna Angela, Masella Laura, Iolascon Achille

Abstract excerpt

BACKGROUND: Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder mainly caused by mutations in the nephrin gene (NPHS1). The frequency of this gene is highest in Finland but the condition occurs in all populations, with and without Finnish ancestry. The NPHS1 gene is located in the chromosomal region 19q13.1 and consists of 29 exons. METHODS: Polymerase chain reaction (PCR),...

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Identifiers

PMID: 12495287

Genes

NPHS1

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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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