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Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Hadchouel, Alice; Wieland, Thomas; Griese, Matthias; Baruffini, Enrico; Lorenz-Depiereux, Bettina; Enaud, Laurent; Graf, Elisabeth; Dubus, Jean Christophe; Halioui-Louhaichi, Sonia; Coulomb, Aurore; Delacourt, Christophe; Eckstein, Gertrud; Zarbock, Ralf; Schwarzmayr, Thomas; Cartault, François; Meitinger, Thomas; Lodi, Tiziana; de Blic, Jacques; Strom, Tim M.
Afiliação
  • Hadchouel A; Service de Pneumologie et d'Allergologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75006 Paris, France; INSERM U-1163, Team of Embryology and Genetics of Congenital Malfo
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Griese M; Hauner Children's University Hospital, Ludwig-Maximilians-Universität, German Center for Lung Research, 80337 Munich, Germany.
  • Baruffini E; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • Lorenz-Depiereux B; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Enaud L; Department of Pediatrics, Centre Hospitalier Universitaire de La Réunion, 97410 Saint-Pierre, La Réunion, France.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Dubus JC; Department of Pediatrics, Timone University Hospital, 13385 Marseille, France.
  • Halioui-Louhaichi S; Department of Pediatrics, Mongi Slim Hospital La Marsa, University of Tunis El Manar, 1007 Tunis, Tunisia.
  • Coulomb A; Service d'Anatomie et Cytologie Pathologiques, Hôpital d'Enfants Armand-Trousseau, Centre Hospitalier Universitaire de Paris-Est, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France.
  • Delacourt C; Service de Pneumologie et d'Allergologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; INSERM U-955, équipe 4, 94000 Créteil, France; Université Paris-Descartes, 75006 Paris, France.
  • Eckstein G; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Zarbock R; Hauner Children's University Hospital, Ludwig-Maximilians-Universität, German Center for Lung Research, 80337 Munich, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Cartault F; Service de Génétique, Centre Hospitalier Universitaire de la Réunion, 97400 Saint-Denis, La Réunion, France.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Lodi T; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • de Blic J; Service de Pneumologie et d'Allergologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Université Paris-Descartes, 75006 Paris, France.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany. Electronic address: timstrom@helmholtz-muenchen.de.
Am J Hum Genet ; 96(5): 826-31, 2015 May 07.
Article em En | MEDLINE | ID: mdl-25913036
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteinose Alveolar Pulmonar / Metionina tRNA Ligase Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteinose Alveolar Pulmonar / Metionina tRNA Ligase Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article