Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.

Autor: Suvanto M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland. maija.suvanto@helsinki.fi., Patrakka J; Department of Medical Biochemistry and Biophysics, Division of Matrix Biology, Karolinska Institute, Stockholm, Sweden., Jahnukainen T; Children's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland.; Department of Medical Biochemistry and Biophysics, Division of Matrix Biology, Karolinska Institute, Stockholm, Sweden., Sjöström PM; Department of Pediatrics, District Hospital of Pietarsaari, Pietarsaari, Finland., Nuutinen M; Department of Pediatrics, University Hospital of Oulu, Oulu, Finland., Arikoski P; Department of Pediatrics, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland., Kataja J; Department of Pediatrics, University Hospital of Turku, Turku, Finland., Kestilä M; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland., Jalanko H; Children's Hospital, University of Helsinki and Helsinki University Hospital, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland.

Publikováno v: Clinical and experimental nephrology [Clin Exp Nephrol] 2017 Aug; Vol. 21 (4), pp. 677-684. Date of Electronic Publication: 2016 Aug 29.