Mutations in EMP2 cause childhood-onset nephrotic syndrome.

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Title: Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Authors: 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.
Source: American journal of human genetics [Am J Hum Genet] 2014 Jun 05; Vol. 94 (6), pp. 884-90. Date of Electronic Publication: 2014 May 08.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mutations in EMP2 cause childhood-onset nephrotic syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Gee+HY%22">Gee HY</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Ashraf+S%22">Ashraf S</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Wan+X%22">Wan X</searchLink>; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Vega-Warner+V%22">Vega-Warner V</searchLink>; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Esteve-Rudd+J%22">Esteve-Rudd J</searchLink>; Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.<br /><searchLink fieldCode="AU" term="%22Lovric+S%22">Lovric S</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Fang+H%22">Fang H</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Hurd+TW%22">Hurd TW</searchLink>; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Sadowski+CE%22">Sadowski CE</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Allen+SJ%22">Allen SJ</searchLink>; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Otto+EA%22">Otto EA</searchLink>; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Korkmaz+E%22">Korkmaz E</searchLink>; Nephrogenetics Laboratory, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.<br /><searchLink fieldCode="AU" term="%22Washburn+J%22">Washburn J</searchLink>; Biomedical Research Core Facilities, University of Michigan, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Levy+S%22">Levy S</searchLink>; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22Williams+DS%22">Williams DS</searchLink>; Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.<br /><searchLink fieldCode="AU" term="%22Bakkaloglu+SA%22">Bakkaloglu SA</searchLink>; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara 06570, Turkey.<br /><searchLink fieldCode="AU" term="%22Zolotnitskaya+A%22">Zolotnitskaya A</searchLink>; New York Medical College, Valhalla, NY 10595, USA.<br /><searchLink fieldCode="AU" term="%22Ozaltin+F%22">Ozaltin F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zhou+W%22">Zhou W</searchLink>; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2014 Jun 05; Vol. 94 (6), pp. 884-90. <i>Date of Electronic Publication: </i>2014 May 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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