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Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
Musante, Luciana; Püttmann, Lucia; Kahrizi, Kimia; Garshasbi, Masoud; Hu, Hao; Stehr, Henning; Lipkowitz, Bettina; Otto, Sabine; Jensen, Lars R; Tzschach, Andreas; Jamali, Payman; Wienker, Thomas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas W.
Afiliação
  • Musante L; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Püttmann L; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Garshasbi M; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Hu H; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Stehr H; Stanford Cancer Institute, Stanford University, Stanford, California.
  • Lipkowitz B; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Otto S; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Jensen LR; Department of Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
  • Tzschach A; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Jamali P; Shahroud Welfare Organization, Semnan, Iran.
  • Wienker T; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Ropers HH; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Kuss AW; Department of Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Hum Mutat ; 38(6): 621-636, 2017 06.
Article em En | MEDLINE | ID: mdl-28236339
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degradação do RNAm Mediada por Códon sem Sentido / Aminoacil-tRNA Sintetases / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degradação do RNAm Mediada por Códon sem Sentido / Aminoacil-tRNA Sintetases / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha