Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families

X-linked Alport syndrome (XLAS) is an inherited renal disease caused by mutations in COL4A5 gene. The c.2858G>T(p.(G953V)) in COL4A5 gene (rs78972735) has been considered pathogenic previously. However, there are conflicting interpretations of its pathogenicity recently. Here we presented 19 Chin...

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Detalles Bibliográficos
Autores principales: Zhang, Yanqin, Ding, Jie, Wang, Suxia, Zhang, Hongwen, Zhong, Xuhui, Liu, Xiaoyu, Xu, Ke, Wang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974604/
https://www.ncbi.nlm.nih.gov/pubmed/31576025
http://dx.doi.org/10.1038/s41431-019-0523-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974604/
https://www.ncbi.nlm.nih.gov/pubmed/31576025
http://dx.doi.org/10.1038/s41431-019-0523-1

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