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Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin, Laura A; Coles, Janice; Jackson, Claire L; Barroso-Gil, Miguel; Green, Ben; Walker, Woolf T; Thomas, N Simon; Thompson, James; Rock, Simon A; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J; Cordell, Heather J; Olinger, Eric; Miles, Colin G; Sayer, John A; Wheway, Gabrielle; Lucas, Jane S.
Afiliación
  • Devlin LA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Coles J; Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Jackson CL; Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Green B; Department of Respiratory Medicine, University Hospitals NHS Trust, Portsmouth, UK.
  • Walker WT; Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Thomas NS; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Thompson J; Wessex Regional Genetics Laboratory, Salisbury NSF Foundation Trust, Salisbury District Hospital, Salisbury, UK.
  • Rock SA; Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Neatu R; North East Innovation Lab, The Newcastle upon Tyne Hospitals NHS Foundation Trust, The Biosphere, Newcastle upon Tyne, UK.
  • Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Molinari E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Cordell HJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Olinger E; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Miles CG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Wheway G; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Lucas JS; Renal Services Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Clin Genet ; 103(3): 330-334, 2023 03.
Article en En | MEDLINE | ID: mdl-36273371
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ciliopatías Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ciliopatías Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido