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Identification of a novelCOL4A5mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

✍ Scribed by Guo, Yi; Yuan, Jinzhong; Liang, Hui; Xiao, Jingjing; Xu, Hongbo; Yuan, Lamei; Gao, Kai; Wu, Bin; Tang, Yongchang; Li, Xiaorong; Deng, Hao


Book ID
121553402
Publisher
Springer
Year
2014
Tongue
English
Weight
368 KB
Volume
41
Category
Article
ISSN
0301-4851

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Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ