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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Veröffentlicht in:PLoS One
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Public Library of Science 2017
Schlagworte:
Research Article
Online Zugang: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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