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Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
Diener, Susanne; Bayer, Sieglinde; Sabrautzki, Sibylle; Wieland, Thomas; Mentrup, Birgit; Przemeck, Gerhard K H; Rathkolb, Birgit; Graf, Elisabeth; Hans, Wolfgang; Fuchs, Helmut; Horsch, Marion; Schwarzmayr, Thomas; Wolf, Eckhard; Klopocki, Eva; Jakob, Franz; Strom, Tim M; Hrabe de Angelis, Martin; Lorenz-Depiereux, Bettina.
Affiliation
  • Diener S; Institute of Human Genetics, German Research Center for Environmental Health (GmbH), Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Bayer S; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Sabrautzki S; Technische Universität München, II. Medizinische Klinik, Klinikum rechts der Isar, 81675, Munich, Germany.
  • Wieland T; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Mentrup B; Member of German Center for Diabetes Research (DZD), Neuherberg, Germany.
  • Przemeck GK; Research Unit Comparative Medicine, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Rathkolb B; Institute of Human Genetics, German Research Center for Environmental Health (GmbH), Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Graf E; Experimental Labs Stem Cell Group, Orthopedic Department, Orthopedic Center for Musculoskeletal Research, University of Würzburg, Friedrich-Bergius-Ring 15, 97076, Würzburg, Germany.
  • Hans W; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Fuchs H; Member of German Center for Diabetes Research (DZD), Neuherberg, Germany.
  • Horsch M; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Schwarzmayr T; Chair for Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Feodor-Lynen-Str.25, 81377, Munich, Germany.
  • Wolf E; Institute of Human Genetics, German Research Center for Environmental Health (GmbH), Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Klopocki E; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Jakob F; Member of German Center for Diabetes Research (DZD), Neuherberg, Germany.
  • Strom TM; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
  • Hrabe de Angelis M; Member of German Center for Diabetes Research (DZD), Neuherberg, Germany.
  • Lorenz-Depiereux B; Institute of Experimental Genetics and German Mouse Clinic, German Research Center for Environmental Health, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Mamm Genome ; 27(3-4): 111-21, 2016 Apr.
Article in En | MEDLINE | ID: mdl-26803617
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Codon, Nonsense / Exome Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals Language: En Journal: Mamm Genome Journal subject: GENETICA Year: 2016 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Codon, Nonsense / Exome Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals Language: En Journal: Mamm Genome Journal subject: GENETICA Year: 2016 Document type: Article Affiliation country: Country of publication: