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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kovács, Gábor, Kalmár, Tibor, Endreffy, Emőke, Ondrik, Zoltán, Iványi, Béla, Rikker, Csaba, Haszon, Ibolya, Túri, Sándor, Sinkó, Mária, Bereczki, Csaba, Maróti, Zoltán
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775026/
https://www.ncbi.nlm.nih.gov/pubmed/26934356
http://dx.doi.org/10.1371/journal.pone.0149241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775026/
https://www.ncbi.nlm.nih.gov/pubmed/26934356
http://dx.doi.org/10.1371/journal.pone.0149241

Ejemplares similares