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MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
Aretz, Stefan; Tricarico, Rossella; Papi, Laura; Spier, Isabel; Pin, Elisa; Horpaopan, Sukanya; Cordisco, Emanuela Lucci; Pedroni, Monica; Stienen, Dietlinde; Gentile, Annamaria; Panza, Anna; Piepoli, Ada; de Leon, Maurizio Ponz; Friedl, Waltraut; Viel, Alessandra; Genuardi, Maurizio.
Afiliação
  • Aretz S; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
  • Tricarico R; Department of Clinical Pathophysiology, University of Florence, Medical Genetics Unit, Florence, Italy.
  • Papi L; Department of Clinical Pathophysiology, University of Florence, Medical Genetics Unit, Florence, Italy.
  • Spier I; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
  • Pin E; Experimental Oncology 1, Centro di Riferimento Oncologico IRCCS, Aviano, Italy.
  • Horpaopan S; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
  • Cordisco EL; Institute of Medical Genetics, Catholic University, Rome, Italy.
  • Pedroni M; Department of Diagnostic and Clinical Medicine and Public Health, University of Modena and Reggio Emilia, Modena, Italy.
  • Stienen D; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
  • Gentile A; Department and Laboratory of Gastroenterology, Scientific Institute and Regional General Hospital, San Giovanni Rotondo, Italy.
  • Panza A; Department and Laboratory of Gastroenterology, Scientific Institute and Regional General Hospital, San Giovanni Rotondo, Italy.
  • Piepoli A; Department and Laboratory of Gastroenterology, Scientific Institute and Regional General Hospital, San Giovanni Rotondo, Italy.
  • de Leon MP; Department of Diagnostic and Clinical Medicine and Public Health, University of Modena and Reggio Emilia, Modena, Italy.
  • Friedl W; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
  • Viel A; Experimental Oncology 1, Centro di Riferimento Oncologico IRCCS, Aviano, Italy.
  • Genuardi M; 1] Department of Clinical Pathophysiology, University of Florence, Medical Genetics Unit, Florence, Italy [2] Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy.
Eur J Hum Genet ; 22(7): 923-9, 2014 Jul.
Article em En | MEDLINE | ID: mdl-23361220

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Polipose Adenomatosa do Colo / Mutação de Sentido Incorreto / DNA Glicosilases / Alelos / Frequência do Gene Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Polipose Adenomatosa do Colo / Mutação de Sentido Incorreto / DNA Glicosilases / Alelos / Frequência do Gene Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Alemanha