Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymeras...

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發表在:PLoS One
Main Authors: Liu, Jian-Hong, Wei, Xiu-Xiu, Li, Ang, Cui, Ying-Xia, Xia, Xin-Yi, Qin, Wei-Song, Zhang, Ming-Chao, Gao, Er-Zhi, Sun, Jun, Gao, Chun-Lin, Liu, Feng-Xia, Wu, Qiu-Yue, Li, Wei-Wei, Asan, Liu, Zhi-Hong, Li, Xiao-Jun
格式: Artigo
語言:Inglês
出版: Public Library of Science 2017
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5436713/
https://ncbi.nlm.nih.gov/pubmed/28542346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0177685
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