Article
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) - 1 May 2013
Kerti Andrea, Csohány Rózsa, Szabó Attila, Arkossy Ottó, Sallay Péter, Moriniére Vincent, Vega-Warner Virginia, Nyírő Gábor, Lakatos Orsolya, Szabó Tamás, Lipska Beata S, Schaefer Franz, Antignac Corinne, Reusz George, Tulassay Tivadar, Tory Kálmán
Abstract excerpt
BACKGROUND: 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. METHODS: A cohort of 38 Hungarian patients with childhood-onset nephrotic-range proteinuria was screened for NPHS2 mutations. The frequency of the p.V290M mutation in late-onset SRNS was examined in the French and PodoNet...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.