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Article

Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.

Iranian journal of kidney diseases - 1 Mar 2015

Gheissari Alaleh, Harandavar Maryam, Hildebrandt Friedhelm, Braun Daniela A, Sedghi Maryam, Parsi Nastaran, Merrikhi Alireza, Madihi Yahya, Aghamohammadi Farzaneh

Abstract excerpt

INTRODUCTION: Nephronophthisis is of the most commonly inherited ciliopathies that leads to end-stage renal disease in children. The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases. This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis. MATERIALS AND METHODS: Fifty-seven patients...

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Source

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Identifiers

PMID: 25851290
PMCID: PMC5852675

Genes

NPHP1

Variants

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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