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A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Kumar, Raman; Ha, Thuong; Pham, Duyen; Shaw, Marie; Mangelsdorf, Marie; Friend, Kathryn L; Hobson, Lynne; Turner, Gillian; Boyle, Jackie; Field, Michael; Hackett, Anna; Corbett, Mark; Gecz, Jozef.
Afiliación
  • Kumar R; School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Ha T; School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
  • Pham D; School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Shaw M; School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Mangelsdorf M; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.
  • Friend KL; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Hobson L; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Turner G; The GOLD service Hunter Genetics, University of Newcastle, Newcastle, New South Wales, Australia.
  • Boyle J; The GOLD service Hunter Genetics, University of Newcastle, Newcastle, New South Wales, Australia.
  • Field M; The GOLD service Hunter Genetics, University of Newcastle, Newcastle, New South Wales, Australia.
  • Hackett A; The GOLD service Hunter Genetics, University of Newcastle, Newcastle, New South Wales, Australia.
  • Corbett M; School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Gecz J; School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
Eur J Hum Genet ; 24(11): 1612-1616, 2016 11.
Article en En | MEDLINE | ID: mdl-27222290
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas Nucleares / Mutagénesis Insercional / Discapacidad Intelectual Ligada al Cromosoma X Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas Nucleares / Mutagénesis Insercional / Discapacidad Intelectual Ligada al Cromosoma X Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido