Article
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
BioMed research international - 1 Jan 2014
Xiu Xiaofei, Yuan Jinzhong, Deng Xiong, Xiao Jingjing, Xu Hongbo, Zeng Zhaoyang, Guan Liping, Xu Fengping, Deng Sheng
Abstract excerpt
Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3), the collagen type IV alpha-4 gene (COL4A4), and the collagen type IV alpha-5 gene (COL4A5), which encodes type IV collagen α3, α4, and α5...
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