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Novel deletion mutation in a Chinese family with X-linked alport syndrome

Backgrounds and Objectives: alport syndrome (AS) is a progressive hereditary condition that is characterized by haematuria, proteinuria, progressive renal impairment, and end stage kidney disease (ESRD). Approximately 85% of AS patients have X-linked mutations in the COL4A5 gene that encodes type IV...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Pathol
Main Authors: Li, Yongzhen, He, Qingnan, Wang, Yanran, Wang, Ying, Dang, Xiqiang, Wu, Xiaochuan, Li, Xiaoyan, Shuai, Lanjun, Yi, Zhuwen
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6962970/
https://ncbi.nlm.nih.gov/pubmed/31949866
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