mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal diseas...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2019-05-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjp-2018-06772.pdf |