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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Detalles Bibliográficos
Autores principales: Zhao, Xuechao, Shang, Xueliang, Chen, Chen, Liu, Lina, Wang, Conghui, Zhao, Ganye, Zhang, Junjun, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323451/
https://www.ncbi.nlm.nih.gov/pubmed/32607233
http://dx.doi.org/10.3892/br.2020.1311

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