Article
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
PloS one - 1 Jan 2016
Kovács Gábor, Kalmár Tibor, Endreffy Emőke, Ondrik Zoltán, Iványi Béla, Rikker Csaba, Haszon Ibolya, Túri Sándor, Sinkó Mária, Bereczki Csaba, Maróti Zoltán
Abstract excerpt
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 end-stage renal failure and improve life expectancy, the earliest possible differential diagnosis is desired....
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