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dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Dos Santos, Reinaldo Sousa; Daures, Mathilde; Philippi, Anne; Romero, Sophie; Marselli, Lorella; Marchetti, Piero; Senée, Valérie; Bacq, Delphine; Besse, Céline; Baz, Baz; Marroquí, Laura; Ivanoff, Sarah; Masliah-Planchon, Julien; Nicolino, Marc; Soulier, Jean; Socié, Gérard; Eizirik, Decio L; Gautier, Jean-François; Julier, Cécile.
Afiliação
  • Dos Santos RS; ULB Center for Diabetes Research, Medical Faculty, Université Libre de Bruxelles, Brussels, Belgium.
  • Daures M; INSERM UMRS 958, Faculté de Médecine Paris Diderot, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Philippi A; INSERM UMRS 958, Faculté de Médecine Paris Diderot, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Romero S; INSERM UMRS 958, Faculté de Médecine Paris Diderot, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Marselli L; Department of Clinical and Experimental Medicine, Islet Cell Laboratory, University of Pisa, Pisa, Italy.
  • Marchetti P; Department of Clinical and Experimental Medicine, Islet Cell Laboratory, University of Pisa, Pisa, Italy.
  • Senée V; INSERM UMRS 958, Faculté de Médecine Paris Diderot, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Bacq D; Centre National de Génotypage, Institut de Génomique, Commissariat à l'Energie Atomique, Evry, France.
  • Besse C; Centre National de Génotypage, Institut de Génomique, Commissariat à l'Energie Atomique, Evry, France.
  • Baz B; Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Department of Diabetes and Endocrinology, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Marroquí L; ULB Center for Diabetes Research, Medical Faculty, Université Libre de Bruxelles, Brussels, Belgium.
  • Ivanoff S; Aplastic Anemia Reference Centre, Hematology Laboratory, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, INSERM U944, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Masliah-Planchon J; Aplastic Anemia Reference Centre, Hematology Laboratory, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, INSERM U944, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Nicolino M; Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Université Lyon 1, Lyon, France.
  • Soulier J; Aplastic Anemia Reference Centre, Hematology Laboratory, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, INSERM U944, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Socié G; Hematology Transplantation, Department of Hematology, Immunology and Oncology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Eizirik DL; ULB Center for Diabetes Research, Medical Faculty, Université Libre de Bruxelles, Brussels, Belgium.
  • Gautier JF; Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Department of Diabetes and Endocrinology, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France.
  • Julier C; INSERM UMRS 958, Faculté de Médecine Paris Diderot, Université Paris Diderot-Paris 7, Université Sorbonne Paris Cité, Paris, France cecile.julier@inserm.fr.
Diabetes ; 66(4): 1086-1096, 2017 04.
Article em En | MEDLINE | ID: mdl-28073829
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Doenças da Medula Óssea / RNA Mensageiro / Apoptose / Diabetes Mellitus / Hemoglobinúria Paroxística / Anemia Aplástica Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Doenças da Medula Óssea / RNA Mensageiro / Apoptose / Diabetes Mellitus / Hemoglobinúria Paroxística / Anemia Aplástica Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article