Article
COL4A3 mutations cause focal segmental glomerulosclerosis.
Journal of molecular cell biology - 1 Dec 2014
Xie Jingyuan, Wu Xiaoxi, Ren Hong, Wang Weiming, Wang Zhaohui, Pan Xiaoxia, Hao Xu, Tong Jun, Ma Jun, Ye Zhibin, Meng Guoyu, Zhu Yufei, Kiryluk Krzysztof, Kong Xiangyin, Hu Landian, Chen Nan
Abstract excerpt
Focal segmental glomerulosclerosis (FSGS) is a histologically identifiable glomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Alport's syndrome (ARAS) patients, and 190 ethnically matched...
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