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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
Jobst-Schwan, Tilman; Klämbt, Verena; Tarsio, Maureen; Heneghan, John F; Majmundar, Amar J; Shril, Shirlee; Buerger, Florian; Ottlewski, Isabel; Shmukler, Boris E; Topaloglu, Rezan; Hashmi, Seema; Hafeez, Farkhanda; Emma, Francesco; Greco, Marcella; Laube, Guido F; Fathy, Hanan M; Pohl, Martin; Gellermann, Jutta; Milosevic, Danko; Baum, Michelle A; Mane, Shrikant; Lifton, Richard P; Kane, Patricia M; Alper, Seth L; Hildebrandt, Friedhelm.
Afiliação
  • Jobst-Schwan T; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Klämbt V; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Tarsio M; Department of Biochemistry and Molecular Biology, State University of New York (SUNY) Upstate Medical University, Syracuse, NY.
  • Heneghan JF; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
  • Majmundar AJ; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Ottlewski I; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shmukler BE; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
  • Topaloglu R; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Hashmi S; Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
  • Hafeez F; Department of Pediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Emma F; Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.
  • Greco M; Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.
  • Laube GF; Nephrology Unit, University Children's Hospital, Zürich, Switzerland.
  • Fathy HM; Pediatric Nephrology Unit, Alexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt.
  • Pohl M; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Gellermann J; Department of Pediatrics, University Children's Hospital of Berlin, University Hospital Berlin Charité, Berlin, Germany.
  • Milosevic D; University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.
  • Baum MA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Kane PM; Department of Biochemistry and Molecular Biology, State University of New York (SUNY) Upstate Medical University, Syracuse, NY.
  • Alper SL; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
  • Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Kidney Int ; 97(3): 567-579, 2020 03.
Article em En | MEDLINE | ID: mdl-31959358
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose Tubular Renal / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Kidney Int Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose Tubular Renal / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Kidney Int Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos