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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham, Sharissa L; Ehmke, Nadja; Reinke, Patrick Y A; Taft, Manuel H; Eicke, Dorothee; Reindl, Theresia; Stenzel, Werner; Lyons, Michael J; Friez, Michael J; Lee, Jennifer A; Hecker, Ramona; Frühwald, Michael C; Becker, Kerstin; Neuhann, Teresa M; Horn, Denise; Schrock, Evelin; Niehaus, Indra; Sarnow, Katharina; Grützmann, Konrad; Gawehn, Luzie; Klink, Barbara; Rump, Andreas; Chaponnier, Christine; Figueiredo, Constanca; Knöfler, Ralf; Manstein, Dietmar J; Di Donato, Nataliya.
Affiliation
  • Latham SL; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany. Latham.Sharissa@mh-hannover.de.
  • Ehmke N; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, 13353, Germany.
  • Reinke PYA; Berlin Institute of Health, Berlin, 10117, Germany.
  • Taft MH; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.
  • Eicke D; Division for Structural Biochemistry, Hannover Medical School, Hannover, 30625, Germany.
  • Reindl T; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.
  • Stenzel W; Institute for Transfusion Medicine, Hannover Medical School, Hannover, 30625, Germany.
  • Lyons MJ; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.
  • Friez MJ; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, 10117, Germany.
  • Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, SC, 29646, USA.
  • Hecker R; Greenwood Genetic Center, Greenwood, South Carolina, SC, 29646, USA.
  • Frühwald MC; Greenwood Genetic Center, Greenwood, South Carolina, SC, 29646, USA.
  • Becker K; Institute for Clinical Chemistry and Laboratory Medicine, Medical Faculty of TU Dresden, Dresden, 01307, Germany.
  • Neuhann TM; Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, 86156, Germany.
  • Horn D; Medical Genetics Center, Munich, 80335, Germany.
  • Schrock E; Medical Genetics Center, Munich, 80335, Germany.
  • Niehaus I; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, 13353, Germany.
  • Sarnow K; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
  • Grützmann K; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
  • Gawehn L; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
  • Klink B; Core Unit for Molecular Tumor Diagnostics, National Center for Tumor Diseases Dresden, Dresden, 01307, Germany.
  • Rump A; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
  • Chaponnier C; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
  • Figueiredo C; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
  • Knöfler R; Department of Pathology-Immunology, Faculty of Medicine, University of Geneva, Geneva, 1211, Switzerland.
  • Manstein DJ; Institute for Transfusion Medicine, Hannover Medical School, Hannover, 30625, Germany.
  • Di Donato N; Department of Paediatric Haemostaseology, Medical Faculty of TU Dresden, Dresden, 01307, Germany.
Nat Commun ; 9(1): 4250, 2018 10 12.
Article in En | MEDLINE | ID: mdl-30315159
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Exons / Actins Limits: Female / Humans / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Exons / Actins Limits: Female / Humans / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2018 Document type: Article Affiliation country: Country of publication: