Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen, which is characterized by hematuria, progressive nephritis or end-stage renal disease (ESRD), hearing loss, and occasionally ocular lesions. Approximately 80% of AS cases are caused by X-linked mutations in th...

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Detalles Bibliográficos
Autores principales: Gong, Wen-yu, Liu, Fan-na, Yin, Liang-hong, Zhang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7943288/
https://www.ncbi.nlm.nih.gov/pubmed/33748275
http://dx.doi.org/10.1155/2021/6664973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7943288/
https://www.ncbi.nlm.nih.gov/pubmed/33748275
http://dx.doi.org/10.1155/2021/6664973

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