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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
Shaheen, Ranad; Han, Lu; Faqeih, Eissa; Ewida, Nour; Alobeid, Eman; Phizicky, Eric M; Alkuraya, Fowzan S.
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Han L; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
  • Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Phizicky EM; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. eric_phizicky@urmc.rochester.edu.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Hum Genet ; 135(7): 707-13, 2016 07.
Article en En | MEDLINE | ID: mdl-27055666
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ARN de Transferencia / Procesamiento Postranscripcional del ARN / Hidroliasas / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ARN de Transferencia / Procesamiento Postranscripcional del ARN / Hidroliasas / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Año: 2016 Tipo del documento: Article