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Article

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.

Journal of cellular and molecular medicine - 1 Dec 2016

Wu Yuan, Hu Pengzhi, Xu Hongbo, Yuan Jinzhong, Yuan Lamei, Xiong Wei, Deng Xiong, Deng Hao

Abstract excerpt

Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high-grade proteinuria and end-stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the disease-causing mutation in a four-generation Chinese family with FSGS. A novel missense mutation, c.1856G>A...

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Source

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Identifiers

PMID: 27469977
DOI: 10.1111/jcmm.12924
PMCID: PMC5134383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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