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Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
Sandokji, Ibrahim; Marquez, Jonathan; Ji, Weizhen; Zerillo, Cynthia A; Konstantino, Monica; Lakhani, Saquib A; Khokha, Mustafa K; Warejko, Jillian K.
Affiliation
  • 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.
BMC Nephrol ; 20(1): 271, 2019 07 17.
Article de En | MEDLINE | ID: mdl-31315584
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Complexe protéique du pore nucléaire / Mutation / Syndrome néphrotique Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Child, preschool / Female / Humans Langue: En Journal: BMC Nephrol Sujet du journal: NEFROLOGIA Année: 2019 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Complexe protéique du pore nucléaire / Mutation / Syndrome néphrotique Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Child, preschool / Female / Humans Langue: En Journal: BMC Nephrol Sujet du journal: NEFROLOGIA Année: 2019 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: Royaume-Uni