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Article

[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2004

Yu Zi-hua, Ding Jie, Guan Na, Shi Yan, Zhang Jing-jing, Huang Jian-ping, Yao Yong, Yang Ji-yun

Abstract excerpt

OBJECTIVE: Autosomal recessive steroid-resistant nephrotic syndrome (SRNS) is a subgroup of familial nephrotic syndrome. A causative gene has been identified, that is NPHS2, in chromosome 1q25-31, which encodes podocin. This study aimed to detect NPHS2 mutation in a Chinese family with SRNS. METH...

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Source

Identifiers

PMID: 15059485

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15059485-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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