Article
Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.
The Journal of molecular diagnostics : JMD - 1 Nov 2012
Wang Fang, Zhao Dan, Ding Jie, Zhang Hongwen, Zhang Yanqin, Yu Lixia, Xiao Huijie, Yao Yong, Zhong Xuhui, Wang Suxia
Abstract excerpt
A total of 209 unrelated patients of predominantly Han Chinese ethnicity and with X-linked Alport's syndrome, a clinically heterogeneous hereditary nephritis, were enrolled in the present study to evaluate the ability to make a clinical diagnosis and perform molecular genetics analysis using skin biopsy. A negative or mosaic α5(IV) chain staining in the epidermal basement membrane was detected in 86.2% of male...
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