Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

The American Journal of Human Genetics - Tập 96 - Trang 826-831 - 2015
Alice Hadchouel1,2,3,4, Thomas Wieland5, Matthias Griese6, Enrico Baruffini7, Bettina Lorenz-Depiereux5, Laurent Enaud8, Elisabeth Graf5, Jean Christophe Dubus9, Sonia Halioui-Louhaichi10, Aurore Coulomb11, Christophe Delacourt1,4,12, Gertrud Eckstein5, Ralf Zarbock6, Thomas Schwarzmayr5, François Cartault13, Thomas Meitinger5,14, Tiziana Lodi7, Jacques de Blic1,15, Tim M. Strom5,14
1Service de Pneumologie et d’Allergologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France
2Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75006 Paris, France
3INSERM U-1163, Team of Embryology and Genetics of Congenital Malformations, 75015 Paris, France
4INSERM U-955, équipe 4, 94000 Créteil, France
5Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
6Hauner Children’s University Hospital, Ludwig-Maximilians-Universität, German Center for Lung Research, 80337 Munich, Germany
7Department of Life Sciences, University of Parma, 43124 Parma, Italy
8Department of Pediatrics, Centre Hospitalier Universitaire de La Réunion, 97410 Saint-Pierre, La Réunion, France
9Department of Pediatrics, Timone University Hospital, 13385 Marseille, France
10Department of Pediatrics, Mongi Slim Hospital La Marsa, University of Tunis El Manar, 1007 Tunis, Tunisia
11Service d’Anatomie et Cytologie Pathologiques, Hôpital d’Enfants Armand-Trousseau, Centre Hospitalier Universitaire de Paris-Est, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France
12Université Paris Descartes, 75006, Paris, France
13Service de Génétique, Centre Hospitalier Universitaire de la Réunion, 97400 Saint-Denis, La Réunion, France
14Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany
15Université Paris-Descartes, 75006 Paris, France

Tài liệu tham khảo

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