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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibáñez, Álvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi; Yis, Uluc; Sonmezler, Ece; Ekinci, Burcu; Aslan, Mahmut; Yilmaz, Elmasnur; Özgör, Bilge; Balaraju, Sunitha; Szabo, Nora; Laurie, Steven; Beltran, Sergi; MacArthur, Daniel G; Hathazi, Denisa; Töpf, Ana; Roos, Andreas; Lochmuller, Hanns; Vernos, Isabelle; Horvath, Rita.
Afiliação
  • Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Paediatric Neurology, Malatya, Turkey.
  • Oktay Y; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Hiz S; Department of Medical Biology, Faculty of Medicine, Dokuz Eylul University and Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.
  • Aranguren-Ibáñez Á; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Kalafatcilar I; Dokuz Eylul University, Faculty of Medicine, Department of Pediatric Neurology Izmir, Turkey.
  • Yaramis A; Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain.
  • Karaca E; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Yis U; Dokuz Eylul University, Faculty of Medicine, Department of Pediatric Neurology Izmir, Turkey.
  • Sonmezler E; Pediatric Neurology Clinic, Private Office, Diyarbakir, Turkey.
  • Ekinci B; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Aslan M; Department of Medical Biology, Faculty of Medicine, Dokuz Eylul University and Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.
  • Yilmaz E; Dokuz Eylul University, Faculty of Medicine, Department of Pediatric Neurology Izmir, Turkey.
  • Özgör B; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Balaraju S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Szabo N; Dokuz Eylul University, Faculty of Medicine, Department of Pediatric Neurology Izmir, Turkey.
  • Laurie S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.
  • Beltran S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Paediatric Neurology, Malatya, Turkey.
  • MacArthur DG; John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK.
  • Hathazi D; Department of Clinical Neurosciences, John Van Geest Cambridge Centre for Brain Repair, University of Cambridge School of Clinical Medicine, Robinson Way, Cambridge CB2 0PY, UK.
  • Töpf A; Department of Clinical Neurosciences, John Van Geest Cambridge Centre for Brain Repair, University of Cambridge School of Clinical Medicine, Robinson Way, Cambridge CB2 0PY, UK.
  • Roos A; Budai Children Hospital, Észak-Közép-budai Centrum, Új Szent János Kórház és Szakrendelo, Budapest, Hungary.
  • Lochmuller H; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Vernos I; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Horvath R; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
iScience ; 24(1): 101948, 2021 Jan 22.
Article em En | MEDLINE | ID: mdl-33458610
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: IScience Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Turquia País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: IScience Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Turquia País de publicação: Estados Unidos