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Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.
Schaeffer, Céline; Izzi, Claudia; Vettori, Andrea; Pasqualetto, Elena; Cittaro, Davide; Lazarevic, Dejan; Caridi, Gianluca; Gnutti, Barbara; Mazza, Cinzia; Jovine, Luca; Scolari, Francesco; Rampoldi, Luca.
Afiliação
  • Schaeffer C; Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Izzi C; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.
  • Vettori A; Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy.
  • Pasqualetto E; Department of Biology, University of Padova, Padova, Italy.
  • Cittaro D; Department of Biotechnology, University of Verona, Verona, Italy.
  • Lazarevic D; Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Caridi G; Center for Translational Genomics and Bioinformatics, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Gnutti B; Center for Translational Genomics and Bioinformatics, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Mazza C; Laboratory of Molecular Nephrology, Istituto Giannina Gaslini IRCCS, Genoa, Italy.
  • Jovine L; Laboratory of Medical Genetics, Department of Pathology, ASST Spedali Civili, Brescia, Italy.
  • Scolari F; Laboratory of Medical Genetics, Department of Pathology, ASST Spedali Civili, Brescia, Italy.
  • Rampoldi L; Department of Biosciences and Nutrition & Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden.
Sci Rep ; 9(1): 11601, 2019 08 12.
Article em En | MEDLINE | ID: mdl-31406136

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Renina / Genes Dominantes / Mutação / Nefrite Intersticial Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Renina / Genes Dominantes / Mutação / Nefrite Intersticial Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália