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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, Hormos Salimi; Sprute, Rosanne; Wunderlich, Gilbert; Daimagüler, Hülya-Sevcan; Karaca, Ezgi; Contreras, Adriana; Becker, Kerstin; Schulze-Rhonhof, Mira; Kiening, Karl; Karakulak, Tülay; Kloss, Manja; Horn, Annette; Pauls, Amande; Nürnberg, Peter; Altmüller, Janine; Thiele, Holger; Assmann, Birgit; Koy, Anne; Cirak, Sebahattin.
Afiliação
  • Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Sprute R; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Wunderlich G; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Daimagüler HS; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Karaca E; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Contreras A; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Becker K; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Schulze-Rhonhof M; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Kiening K; Izmir Biomedicine and Genome Center, Izmir, Turkey.
  • Karakulak T; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey.
  • Kloss M; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Horn A; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Pauls A; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Nürnberg P; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Altmüller J; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Thiele H; Department of Neurosurgery, University Hospital, Heidelberg, Germany.
  • Assmann B; Izmir Biomedicine and Genome Center, Izmir, Turkey.
  • Koy A; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey.
  • Cirak S; Department of Neurology, University Hospital, Heidelberg, Germany.
J Hum Genet ; 64(8): 803-813, 2019 Aug.
Article em En | MEDLINE | ID: mdl-31165786
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Histona-Lisina N-Metiltransferase / Predisposição Genética para Doença / Distonia / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Histona-Lisina N-Metiltransferase / Predisposição Genética para Doença / Distonia / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido