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NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
Guaragna, Mara S; Cleto, Thaís Lira; Souza, Marcela Lopes; Lutaif, Anna Cristina G B; de Castro, Luiz Cláudio Gonçalves; Penido, Maria Goretti Moreira Guimarães; Maciel-Guerra, Andréa T; Belangero, Vera M S; Guerra-Junior, Gil; De Mello, Maricilda P.
Afiliação
  • Guaragna MS; Center for Molecular Biology and Genetic Engineering, University of Campinas, Sao Paulo, Brazil.
  • Cleto TL; Nephrology Center of University Hospital Pedro Ernesto, Rio de Janeiro, Brazil.
  • Souza ML; Center for Molecular Biology and Genetic Engineering, University of Campinas, Sao Paulo, Brazil.
  • Lutaif AC; Pediatric Nephrology, Department of Pediatrics, School of Medical Sciences, University of Campinas, Campinas, Sao Paulo, Brazil.
  • de Castro LC; Pediatric Endocrinology, Faculty of Medicine, University of Brasilia, Brasilia, Federal District, Brazil.
  • Penido MG; Pediatric Department, Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
  • Maciel-Guerra AT; Department of Medical Genetics, School of Medical Sciences, University of Campinas, Campinas, Sao Paulo, Brazil.
  • Belangero VM; Pediatric Nephrology, Department of Pediatrics, School of Medical Sciences, University of Campinas, Campinas, Sao Paulo, Brazil.
  • Guerra-Junior G; Interdisciplinary study group of determination and sex differentiation, School of Medical Sciences, University of Campinas, Campinas, Sao Paulo, Brazil.
  • De Mello MP; Pediatric Research Center, School of Medical Sciences, University of Campinas, Campinas, Sao Paulo, Brazil.
Nephrology (Carlton) ; 21(9): 753-7, 2016 Sep.
Article em En | MEDLINE | ID: mdl-26560236

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Mutação / Síndrome Nefrótica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do sul / Brasil Idioma: En Revista: Nephrology (Carlton) Assunto da revista: NEFROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Mutação / Síndrome Nefrótica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do sul / Brasil Idioma: En Revista: Nephrology (Carlton) Assunto da revista: NEFROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil