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Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
Spier, Isabel; Drichel, Dmitriy; Kerick, Martin; Kirfel, Jutta; Horpaopan, Sukanya; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Adam, Ronja; Zhao, Bixiao; Becker, Tim; Lifton, Richard P; Perner, Sven; Hoffmann, Per; Kristiansen, Glen; Timmermann, Bernd; Nöthen, Markus M; Holinski-Feder, Elke; Schweiger, Michal R; Aretz, Stefan.
  • Spier I; Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany.
  • Drichel D; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Kerick M; Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Kirfel J; Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany Institute of Pathology, University of Bonn, Bonn, Germany.
  • Horpaopan S; Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Anatomy, Faculty of Medical Science, Naresuan University, Phitsanulok, Thailand.
  • Laner A; Medizinische Klinik-Campus Innenstadt, Klinikum der LMU, Munich, Germany MGZ-Center of Medical Genetics, Munich, Germany.
  • Holzapfel S; Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany.
  • Peters S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Adam R; Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany.
  • Zhao B; Departments of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Becker T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany.
  • Lifton RP; Departments of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Perner S; Section for Prostate Cancer Research, Institute of Pathology, Center for Integrated Oncology Cologne/Bonn, University Hospital of Bonn, Bonn, Germany.
  • Hoffmann P; Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany Division of Medical Genetics, University Hospital Basel and Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Kristiansen G; Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany Institute of Pathology, University of Bonn, Bonn, Germany.
  • Timmermann B; Next Generation Sequencing Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
  • Holinski-Feder E; Medizinische Klinik-Campus Innenstadt, Klinikum der LMU, Munich, Germany MGZ-Center of Medical Genetics, Munich, Germany.
  • Schweiger MR; Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Aretz S; Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany.
J Med Genet ; 53(3): 172-9, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26613750

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genes APC / Poliposis Adenomatosa del Colon / Mutación Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Humans / Middle aged Idioma: En Año: 2016 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genes APC / Poliposis Adenomatosa del Colon / Mutación Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Humans / Middle aged Idioma: En Año: 2016 Tipo del documento: Article