NPHS2 Gene Mutation and Polymorphisms in Indonesian Children with Steroid-Resistant Nephrotic Syndrome
Read full paper at: http://www.scirp.org/journal/PaperInformation.aspx?PaperID=53907#.VNsH7izQrzE Author(s) Dedi Rachmadi 1* , Ani Melani 2 , Leo Monnens 3 Affiliation(s) 1 Department of Child Health, Faculty of Medicine, Universitas Padjadjaran Bandung, Bandung, Indonesia . 2 Medical Faculty, Health Research Unit, Universitas Padjadjaran Bandung, Bandung, Indonesia . 3 Department of Pediatrics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands . ABSTRACT Objective: Although several NPHS2 gene mutations and polymorphisms were described and associated with clinical manifestation of steroid-resistant nephrotic syndrome (SRNS), the occurrence of these genetic abnormalities or variants appeared to be influenced by race and ethnic group. We have investigated probable mutations and variants in NPHS2 gene involved in SRNS and their association with clinical manifestations. Methods: We e...