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Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome

Alport syndrome (AS) is an inherited progressive nephropathy caused by mutations in one or two of the type IV collagen novel chains (α3, α4 and α5), which are encoded by COL4A3, COL4A4 and COL4A5, respectively. To date, three genetic forms of AS have been reported, including X-linked AS, autosomal r...

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Detalhes bibliográficos
Publicado no:Biomed Rep
Main Authors: Zhao, Xuechao, Shang, Xueliang, Chen, Chen, Liu, Lina, Wang, Conghui, Zhao, Ganye, Zhang, Junjun, Kong, Xiangdong
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7323451/
https://ncbi.nlm.nih.gov/pubmed/32607233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2020.1311
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