A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

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 alph...

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Bibliographic Details
Main Authors: Xiaofei Xiu, Jinzhong Yuan, Xiong Deng, Jingjing Xiao, Hongbo Xu, Zhaoyang Zeng, Liping Guan, Fengping Xu, Sheng Deng
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2014/186048