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Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Autor: Sandokji I; Department of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA., Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA., Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA., Zerillo CA; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA., Konstantino M; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA., Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA., Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA., Warejko JK; Department of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA. jillian.warejko@yale.edu.

Publikováno v: BMC nephrology [BMC Nephrol] 2019 Jul 17; Vol. 20 (1), pp. 271. Date of Electronic Publication: 2019 Jul 17.