Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

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• 来源
  《neurogenetics》 |2009年第4期|375-376|共2页
• 作者

  Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R. Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss;

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• 作者单位

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

  Institute of Biochemistry Friedrich-Alexander University Emil-Fischer-Zentrum Fahrstraße 17 91054 Erlangen Germany;

  Institute of Biochemistry Friedrich-Alexander University Emil-Fischer-Zentrum Fahrstraße 17 91054 Erlangen Germany;

  School of Biological Sciences Universidad Nacional Heredia Costa Rica;

  Laboratory of Neurology Neurolab San José Costa Rica;

  Department of Molecular and Human Genetics Baylor College of Medicine One Baylor Plaza Room 601B Houston TX 77030 USA;

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

  School of Biology University of Costa Rica San Jose Costa Rica;

  Department of Neurology University of Münster Albert-Schweitzer-Str. 33 48129 Münster Germany;

  Klinikum der Justus-Liebig-Universität 35385 Gießen Germany;

  Department of Neurology Friedrich-Alexander University Schwabachanlage 6 91054 Erlangen Germany;

  Department of Neurology Friedrich-Alexander University Schwabachanlage 6 91054 Erlangen Germany;

  Schweizerisches Epilepsie-Zentrum Bleulerstr. 60 8008 Zurich Switzerland;

  Department of Neurology University of Münster Albert-Schweitzer-Str. 33 48129 Münster Germany;

  Gene Expression Institute of Immunology GSF-National Research Center for Environment and Health Marchioninistr. 25 81375 Munich Germany;

  Gene Expression Institute of Immunology GSF-National Research Center for Environment and Health Marchioninistr. 25 81375 Munich Germany;

  Gene Expression Institute of Immunology GSF-National Research Center for Environment and Health Marchioninistr. 25 81375 Munich Germany;

  Department of Neurogenetics Max-Planck-Institute of Experimental Medicine Hermann-Rein-Str. 3 37075 Göttingen Germany;

  Department of Neurogenetics Max-Planck-Institute of Experimental Medicine Hermann-Rein-Str. 3 37075 Göttingen Germany;

  Department of Neurogenetics Max-Planck-Institute of Experimental Medicine Hermann-Rein-Str. 3 37075 Göttingen Germany;

  Department of Neurogenetics Max-Planck-Institute of Experimental Medicine Hermann-Rein-Str. 3 37075 Göttingen Germany;

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

  Institute of Human Genetics Friedrich-Alexander University Schwabachanlage 10 91054 Erlangen Germany;

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