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Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Cutrupi, Anthony N; Narayanan, Ramesh K; Perez-Siles, Gonzalo; Grosz, Bianca R; Lai, Kaitao; Boyling, Alexandra; Ellis, Melina; Lin, Ruby C Y; Neumann, Brent; Mao, Di; Uesugi, Motonari; Nicholson, Garth A; Vucic, Steve; Saporta, Mario A; Kennerson, Marina L.
Afiliação
  • Cutrupi AN; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Narayanan RK; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Grosz BR; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Lai K; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Boyling A; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Lin RCY; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Neumann B; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Mao D; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Uesugi M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Nicholson GA; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Vucic S; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
  • Saporta MA; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Kennerson ML; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.
Brain ; 146(3): 880-897, 2023 03 01.
Article em En | MEDLINE | ID: mdl-36380488
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article