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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Veröffentlicht in:PLoS One
Hauptverfasser: Kovács, Gábor, Kalmár, Tibor, Endreffy, Emőke, Ondrik, Zoltán, Iványi, Béla, Rikker, Csaba, Haszon, Ibolya, Túri, Sándor, Sinkó, Mária, Bereczki, Csaba, Maróti, Zoltán
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2016
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4775026/
https://ncbi.nlm.nih.gov/pubmed/26934356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0149241
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