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Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Gee, Heon Yung; Ashraf, Shazia; Wan, Xiaoyang; Vega-Warner, Virginia; Esteve-Rudd, Julian; Lovric, Svjetlana; Fang, Humphrey; Hurd, Toby W; Sadowski, Carolin E; Allen, Susan J; Otto, Edgar A; Korkmaz, Emine; Washburn, Joseph; Levy, Shawn; Williams, David S; Bakkaloglu, Sevcan A; Zolotnitskaya, Anna; Ozaltin, Fatih; Zhou, Weibin; Hildebrandt, Friedhelm.
Afiliación
  • Gee HY; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Ashraf S; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Wan X; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Vega-Warner V; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Esteve-Rudd J; Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Lovric S; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Fang H; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Hurd TW; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Sadowski CE; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Allen SJ; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Otto EA; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Korkmaz E; Nephrogenetics Laboratory, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
  • Washburn J; Biomedical Research Core Facilities, University of Michigan, Ann Arbor, MI 48109, USA.
  • Levy S; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.
  • Williams DS; Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Bakkaloglu SA; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara 06570, Turkey.
  • Zolotnitskaya A; New York Medical College, Valhalla, NY 10595, USA.
  • Ozaltin F; Nephrogenetics Laboratory, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey; Department of Pediatric Nephrology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey; Center for Biobanking and Genomics, Hacettepe University, Ankara 06100, Turkey.
  • Zhou W; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Am J Hum Genet ; 94(6): 884-90, 2014 Jun 05.
Article en En | MEDLINE | ID: mdl-24814193
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Mutación / Síndrome Nefrótico Tipo de estudio: Etiology_studies Límite: Animals / Child, preschool / Humans / Infant Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Mutación / Síndrome Nefrótico Tipo de estudio: Etiology_studies Límite: Animals / Child, preschool / Humans / Infant Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos