mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

• Autori principali: Kyoung Hee Han (Autore), Jong Eun Park (Autore), Chang-Seok Ki (Autore)
• Natura: Libro
• Pubblicazione: Korean Pediatric Society, 2019-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...