Article
Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.
Kidney international - 1 Sept 2015
Xie Jingyuan, Hao Xu, Azeloglu Evren U, Ren Hong, Wang Zhaohui, Ma Jun, Liu Jian, Ma Xiaodan, Wang Weiming, Pan Xiaoxia, Zhang Wen, Zhong Fang, Li Yifu, Meng Guoyu, Kiryluk Krzysztof, He John Cijiang, Gharavi Ali G, Chen Nan
Abstract excerpt
Here, we report a genetic study of an extended family of Chinese ancestry with focal segmental glomerulosclerosis (FSGS), with one of the affected members also concurrently diagnosed with IgA nephropathy (IgAN). By genome-wide linkage analysis and subsequent sequencing, we identified an S85W muta...
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