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(French) Une mutation d’un gène en cause dans des formes familiales d’anévrysme de l’aorte

09 Jul 2012 | By INSERM (Newsroom) | Circulation, metabolism, nutrition

Sorry, this press release is only available in French.

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TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome   Catherine Boileau1,2,3,4,14,15, Dong-Chuan Guo5,14, Nadine Hanna1,2,3, Ellen S. Regalado5, Delphine Detaint1,2,6, Limin Gong5, Mathilde Varret1, Siddharth Prakash5,12, Alexander H. Li5, Hyacintha d’Indy1,3, Alan C. Braverman7, Bernard Grandchamp2,8, Callie S. Kwartler5, Laurent Gouya2,3,4, Regie Lyn P. Santos-Cortez9, Marianne Abifadel1, Suzanne M. Leal9, Christine Muti2, Jay Shendure10, Marie-Sylvie Gross1, Mark J. Rieder10, Alec Vahanian6,8, Deborah A. Nickerson10, Jean Baptiste Michel1, National Heart Lung and Blood Institute (NHLBI) Go Exome Sequencing Project11, Guillaume Jondeau1,2,6,8,14, Dianna M. Milewicz5,12.13,14,15 [break] 1Institut National de la Santé et de la Recherche Médicale (INSERM) U698, Hôpital Bichat, Paris France ; 2Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat, Centre National de Référence pour les syndromes de Marfan et apparentés, Service de Cardiologie, Paris, France; 3AP-HP, Ambroise Paré, Service de Biochimie d’Hormonologie et de Génétique moléculaire, Boulogne, France 4 Université Versailles SQY, Guyancourt, France ; 5Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas, USA; 6 AP-HP, service de Cardiologie, Hopital Bichat, Paris, France; 7Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA; 8 UFR de Médecine, Université Paris 7, Paris, France ; 9Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; 10Department of Genome Sciences, University of Washington, Seattle, Washington, USA; 11Exome Sequencing Project Banner available in the supplementary materials; 12Memorial Hermann Heart and Vascular Institute, Houston, Texas, USA; 13Texas Heart Institute at St. Luke’s Episcopal Hospital, Houston, Texas, USA. 14These authors contributed equally to this work. 15These authors jointly directed this work. [break]Nature genetics 8 juillet 2012
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