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A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Paolini, Nahuel A; Attwood, Martin; Sondalle, Samuel B; Vieira, Carolina Marques Dos Santos; van Adrichem, Anita M; di Summa, Franca M; O'Donohue, Marie-Françoise; Gleizes, Pierre-Emmanuel; Rachuri, Swaksha; Briggs, Joseph W; Fischer, Roman; Ratcliffe, Peter J; Wlodarski, Marcin W; Houtkooper, Riekelt H; von Lindern, Marieke; Kuijpers, Taco W; Dinman, Jonathan D; Baserga, Susan J; Cockman, Matthew E; MacInnes, Alyson W.
Afiliação
  • Paolini NA; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands.
  • Attwood M; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK.
  • Sondalle SB; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Vieira CMDS; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
  • van Adrichem AM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • di Summa FM; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands.
  • O'Donohue MF; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France.
  • Gleizes PE; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France.
  • Rachuri S; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
  • Briggs JW; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
  • Fischer R; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK.
  • Ratcliffe PJ; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK.
  • Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Houtkooper RH; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • von Lindern M; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands.
  • Kuijpers TW; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • Dinman JD; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
  • Baserga SJ; Department of Molecular Biophysics and Biochemistry, Genetics, and Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Cockman ME; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK.
  • MacInnes AW; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands. Electronic address: a.w.macinnes@amc.nl.
Am J Hum Genet ; 100(3): 506-522, 2017 Mar 02.
Article em En | MEDLINE | ID: mdl-28257692
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Ribossomos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Ribossomos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda