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.
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2013
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| In: |
Pediatric nephrology
Year: 2012, Jahrgang: 28, Heft: 5, Pages: 751-757 |
| ISSN: | 1432-198X |
| DOI: | 10.1007/s00467-012-2379-2 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00467-012-2379-2
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| Verfasserangaben: | 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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| 520 | |a 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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