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Article

Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome.

Journal of cellular biochemistry - 1 Dec 2018

Mohanapriya Chinambedu Dhandapani, Vettriselvi Venkatesan, Nammalwar Bollam Rengaswamy, Gowrishankar Kalpana, Ekambaram Sudha, Sengutavan Prabha, Venkatachalam Perumal

Abstract excerpt

Mutations in NPHS1 can lead to disruption of the filtration barrier and cause proteinuria in nephrotic syndrome (NS). The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30171708
DOI: 10.1002/jcb.27351

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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