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Akademický článek

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Autor: Wallace SE; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Regalado ES; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Gong L; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Janda AL; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Guo DC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Russo CF; Division of Cardiac Surgery, Niguarda Ca' Granda Metropolital Hospital, Milan, Italy., Kulmacz RJ; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Hanna N; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Jondeau G; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Boileau C; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Arnaud P; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hannuksela M; Department of Surgical and Perioperative Sciences, Umeå University, Umeå, Sweden., Carlberg B; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden., Johnston T; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Antolik C; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Colombo R; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.; Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University, IRCCS Policlinico 'Agostino Gemelli', Rome, Italy., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA. Dianna.M.Milewicz@uth.tmc.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 144-151. Date of Electronic Publication: 2018 Jun 20.

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