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Nephrology (Genitourinary)
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Clin Exp Pediatr. 2019;62(5):193-197.   Published online November 26, 2018
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 disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and...