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Germline Mutation of RPS20, Encoding a Ribosomal Protein,Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency
Authors:Taina T. Nieminen,Marie-Franç  oise O&rsquo  Donohue,Yunpeng Wu,Hannes Lohi,Stephen W. Scherer,Andrew D. Paterson,Pekka Ellonen,Wael M. Abdel-Rahman,Satu Valo,Jukka-Pekka Mecklin,Heikki J. Jä  rvinen,Pierre-Emmanuel Gleizes,Pä  ivi Peltomä  ki
Affiliation:1 Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland;6 Research Programs Unit, Molecular Neurology, Faculty of Medicine, University of Helsinki, Helsinki, Finland;7 Department of Veterinary Biosciences, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland;11 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;13 Department of Biosciences, University of Helsinki, Helsinki, Finland;2 Laboratoire de Biologie Moleculaire Eucaryote, UPS, Université de Toulouse, Toulouse, France;3 Centre National de la Recherche Scientifique, UMR 5099, Toulouse, France;4 Human Cancer Genetics Program, Ohio State University, Columbus, Ohio;5 Department of Specialty Medicine, OU-HCOM, Athens, Ohio;8 Folkhälsan Institute of Genetics, Helsinki, Finland;9 The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada;10 McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada;12 Department of Medical Laboratory Sciences, College of Health Sciences, University of Sharjah, Sharjah, United Arab Emirates;14 Department of Surgery, Jyväskylä Central Hospital, Jyväskylä, Finland;15 Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland;16 Second Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
Abstract:
Keywords:Colon Cancer   Hereditary Nonpolyposis Colorectal Cancer   Ribosome   Exome Sequencing
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