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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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
Soggetti:
Research Article
Accesso online: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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