A novel missense mutation of COL4A5 gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family

BACKGROUND: X-linked Alport syndrome (XLAS) is the most common form of Alport syndrome (AS), involves mutations in the COL4A5 gene encoding the type IV collagen a5 chain. In this research, we will report the analysis of the COL4A5 gene in a Chinese family with XLAS, and investigate the effect of the...

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Detalles Bibliográficos
Autores principales: Kuang, Xinyu, Sun, Lei, Wu, Ying, Huang, Wenyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658769/
https://www.ncbi.nlm.nih.gov/pubmed/33209720
http://dx.doi.org/10.21037/tp-20-47

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658769/
https://www.ncbi.nlm.nih.gov/pubmed/33209720
http://dx.doi.org/10.21037/tp-20-47

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