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Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.
Lee, Vivian S; Halabi, Carmen M; Hoffman, Erin P; Carmichael, Nikkola; Leshchiner, Ignaty; Lian, Christine G; Bierhals, Andrew J; Vuzman, Dana; Mecham, Robert P; Frank, Natasha Y; Stitziel, Nathan O.
Afiliação
  • Lee VS; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110;
  • Halabi CM; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110; Division of Nephrology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110;
  • Hoffman EP; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115;
  • Carmichael N; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115; Harvard Medical School, Boston, MA 02115;
  • Leshchiner I; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115; Harvard Medical School, Boston, MA 02115;
  • Lian CG; Harvard Medical School, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115;
  • Bierhals AJ; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO 63110;
  • Vuzman D; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115; Harvard Medical School, Boston, MA 02115;
  • Mecham RP; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110;
  • Frank NY; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115; Harvard Medical School, Boston, MA 02115; VA Boston Healthcare System, Boston, MA 02132; nfrank@partners.org nstitziel@wustl.edu.
  • Stitziel NO; Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110 nfrank@part
Proc Natl Acad Sci U S A ; 113(31): 8759-64, 2016 08 02.
Article em En | MEDLINE | ID: mdl-27432961
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Predisposição Genética para Doença / Mutação com Perda de Função / Dissecção Aórtica / Proteína-Lisina 6-Oxidase Tipo de estudo: Etiology_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Predisposição Genética para Doença / Mutação com Perda de Função / Dissecção Aórtica / Proteína-Lisina 6-Oxidase Tipo de estudo: Etiology_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article