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High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).
Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence A; Sztromwasser, Pawel; Kråkenes, Jostein; Mellgren, Anne E C; Brurås, Kari R; Lind, Ola; Boman, Helge; Knappskog, Per M; Rødahl, Eyvind.
Afiliação
  • Bredrup C; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Johansson S; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Bindoff LA; Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Sztromwasser P; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway; Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway.
  • Kråkenes J; Department of Radiology, Haukeland University Hospital, Bergen, Norway.
  • Mellgren AE; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Brurås KR; Department of Radiology, Haukeland University Hospital, Bergen, Norway.
  • Lind O; Department of Otolaryngology-Head and Neck Surgery, Haukeland University Hospital, Bergen, Norway.
  • Boman H; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Knappskog PM; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Rødahl E; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway. Electronic address: eyvind.rodahl@helse-bergen.no.
Am J Ophthalmol ; 159(5): 973-9.e2, 2015 May.
Article em En | MEDLINE | ID: mdl-25634536

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Disco Óptico / Anormalidades do Olho / Mutação da Fase de Leitura / Ubiquitina-Proteína Ligases / Miopia Degenerativa / Proteínas Adaptadoras de Transdução de Sinal Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Disco Óptico / Anormalidades do Olho / Mutação da Fase de Leitura / Ubiquitina-Proteína Ligases / Miopia Degenerativa / Proteínas Adaptadoras de Transdução de Sinal Idioma: En Ano de publicação: 2015 Tipo de documento: Article