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Article

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

Nephrology (Carlton, Vic.) - 1 Mar 2016

Sun Liangzhong, Tong Huajuan, Wang Haiyan, Yue Zhihui, Liu Ting, Lin Hongrong, Li Jun, Wang Changxi

Abstract excerpt

AIM: The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients. METHODS: Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical data were collected. RESULTS: Eighteen patients from 17 families were included in this study. Eight of 17 (47.1%) patients detected were identified to have mutations...

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Source

Identifiers

PMID: 26184788
DOI: 10.1111/nep.12563

Genes

NPHP3

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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