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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Public Library of Science 2017
Subjects:
Research Article
Online Access: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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