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Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Oussalah, Abderrahim; Jeannesson-Thivisol, Elise; Chéry, Céline; Perrin, Pascal; Rouyer, Pierre; Josse, Thomas; Cano, Aline; Barth, Magalie; Fouilhoux, Alain; Mention, Karine; Labarthe, François; Arnoux, Jean-Baptiste; Maillot, François; Lenaerts, Catherine; Dumesnil, Cécile; Wagner, Kathy; Terral, Daniel; Broué, Pierre; De Parscau, Loic; Gay, Claire; Kuster, Alice; Bédu, Antoine; Besson, Gérard; Lamireau, Delphine; Odent, Sylvie; Masurel, Alice; Rodriguez-Guéant, Rosa-Maria; Feillet, François; Guéant, Jean-Louis; Namour, Fares.
  • Oussalah A; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France;
  • Jeannesson-Thivisol E; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.
  • Chéry C; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France;
  • Perrin P; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.
  • Rouyer P; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France.
  • Josse T; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.
  • Cano A; Centre of Reference for Inborn Metabolic Diseases, University Hospital La Timone, Marseille, France.
  • Barth M; Department of Genetics, University Hospital of Angers, Angers, France.
  • Fouilhoux A; Metabolic Diseases Unit, Woman-Mother-Child Hospital, University Hospital of Lyon, Lyon, France.
  • Mention K; Jeanne de Flandre Hospital, Lille, France.
  • Labarthe F; Paediatric Unit, University Hospital of Tours, Tours, France.
  • Arnoux JB; Reference Centre for Inherited Metabolic Diseases, Necker-Sick Children's Hospital, Imagine Institute, Paris Descartes University, Paris, France.
  • Maillot F; Department of Internal Medicine, University Hospital of Tours, François Rabelais University, Tours, France.
  • Lenaerts C; Department of Paediatrics, University Hospital of Amiens, Amiens, France.
  • Dumesnil C; Paediatric Haematology and Oncology, University Hospital of Rouen, Rouen, France.
  • Wagner K; Department of Paediatrics, Lenval Hospital, Nice, France.
  • Terral D; Department of Paediatrics, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.
  • Broué P; Reference Centre for Inborn Errors of Metabolism, University Children Hospital, Toulouse, France.
  • De Parscau L; Department of Paediatrics, University Hospital Morvan, Brest, France.
  • Gay C; Department of Paediatrics, University Hospital of Saint-Etienne, Saint-Etienne, France.
  • Kuster A; Paediatric Department, University Hospital of Nantes, Nantes, France.
  • Bédu A; Department of Neonatology, Mother and Child Hospital, Limoges, France.
  • Besson G; Department of Neurology, University Hospital of Grenoble, Grenoble, France.
  • Lamireau D; Department of Paediatrics, Pellegrin-Enfants Hospital, Bordeaux, France.
  • Odent S; Department of Clinical Genetics, University Hospital of Rennes, Rennes, France.
  • Masurel A; Department of Medical Genetics, Dijon Bourgogne University Hospital, Dijon, France.
  • Rodriguez-Guéant RM; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France;
  • Feillet F; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France; Department of Paediatrics, Univers
  • Guéant JL; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France;
  • Namour F; University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France;
EBioMedicine ; 51: 102623, 2020 Jan.
Article en En | MEDLINE | ID: mdl-31923802

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenilalanina Hidroxilasa / Fenilcetonurias / Etnicidad / Evolución Biológica / Genética de Población Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenilalanina Hidroxilasa / Fenilcetonurias / Etnicidad / Evolución Biológica / Genética de Población Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article