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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2021-01-01
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| Series: | BioMed Research International |
| Online Access: | http://dx.doi.org/10.1155/2021/6664973 |