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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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: e-Century Publishing Corporation 2018
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6962970/
https://ncbi.nlm.nih.gov/pubmed/31949866
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