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

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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Bibliographic Details
Main Authors:	Wen-yu Gong, Fan-na Liu, Liang-hong Yin, Jun Zhang
Format:	Article
Language:	English
Published:	Hindawi Limited 2021-01-01
Series:	BioMed Research International
Online Access:	http://dx.doi.org/10.1155/2021/6664973

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