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NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

The most frequently mutated gene of steroid-resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS.

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Bibliographic Details
Main Authors: Kerti, Andrea (Author) , Csohány, Rózsa (Author) , Szabó, Attila (Author) , Árkossy, Ottó (Author) , Sallay, Péter (Author) , Moriniére, Vincent (Author) , Vega-Warner, Virginia (Author) , Nyírő, Gábor (Author) , Lakatos, Orsolya (Author) , Szabó, Tamás (Author) , Lipska-Ziętkiewicz, Beata S. (Author) , Schaefer, Franz (Author) , Antignac, Corinne (Author) , Reusz, George (Author) , Tulassay, Tivadar (Author) , Tory, Kálmán (Author)
Format: Article (Journal)
Language:English
Published: 2013
In: Pediatric nephrology
Year: 2012, Volume: 28, Issue: 5, Pages: 751-757
ISSN:1432-198X
DOI:10.1007/s00467-012-2379-2
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00467-012-2379-2
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Author Notes:Andrea Kerti, Rózsa Csohány, Attila Szabó, Ottó Árkossy, Péter Sallay, Vincent Moriniére, Virginia Vega-Warner, Gábor Nyírő, Orsolya Lakatos, Tamás Szabó, Beata S. Lipska, Franz Schaefer, Corinne Antignac, George Reusz, Tivadar Tulassay, Kálmán Tory
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Summary:The most frequently mutated gene of steroid-resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS.
Item Description:Gesehen am 28.04.2021
First published: 14 December 2012
Physical Description:Online Resource
ISSN:1432-198X
DOI:10.1007/s00467-012-2379-2

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