Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even before the onset of proteinuria, can delay the onset of...

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Main Authors: Gábor Kovács, Tibor Kalmár, Emőke Endreffy, Zoltán Ondrik, Béla Iványi, Csaba Rikker, Ibolya Haszon, Sándor Túri, Mária Sinkó, Csaba Bereczki, Zoltán Maróti
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4775026?pdf=render