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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

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作者单位: Genomic Medicine Institute, Geisinger, Danville, Pennsylvania. Electronic address: asturm@geisinger.edu. [1] Department of Medicine, Division of Cardiovascular Medicine, and Cardiovascular Institute, Stanford University, Stanford California; The Familial Hypercholesterolemia Foundation, Pasadena, California. [2] Nemours Cardiac Center, A.I. DuPont Hospital for Children, Wilmington, Delaware. [3] Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas. [4] The Familial Hypercholesterolemia Foundation, Pasadena, California. [5] Department of Medicine, Baylor College of Medicine, Houston, Texas. [6] The Familial Hypercholesterolemia Foundation, Pasadena, California; Department of Integrated Medical Sciences, Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, Florida. [7] Unidade I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Lisboa, Portugal. [8] Sorbonne Université and Centre de Génétique Moléculaire et Chromosomique, unité de Génétique de l'Obésitéet des dyslipidémies, Hôpital de la Pitié-Salpêtrière, Paris, France. [9] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. [10] Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. [11] Department of Clinical Genetics, Academic Medical Center at the University of Amsterdam, Amsterdam, the Netherlands. [12] Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. [13] Department of Internal Medicine, Wexner Medical Center at The Ohio State University, Columbus, Ohio. [14] Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands. [15] Bioinformatics, Genomics England, Queen Mary University of London, London, United Kingdom. [16] Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee. [17] Fundación Hipercolesterolemia Familiar, Madrid, Spain. [18] The Familial Hypercholesterolemia Foundation, Pasadena, California; Department of Pediatrics (Cardiology), West Virginia University, Morgantown, West Virginia. [19] Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. [20] Lipid Clinic Heart Institute (InCor) University of São Paulo Medical School Hospital and Hospital Israelita Albert Einstein, São Paulo, Brazil. [21] Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan. [22] Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands. [23] Department of Medicine, Division of Cardiology, Department of Genetics, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri. [24] Department of Cardiovascular Medicine, Rinku General Medical Center, Osaka, Japan; Departments of Community Medicine and Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan. [25] Genomic Medicine Institute, Geisinger, Danville, Pennsylvania. [26] The Familial Hypercholesterolemia Foundation, Pasadena, California; Departments of Genetics, Medicine, and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. [27]
DOI 10.1016/j.jacc.2018.05.044
PMID 30071997
发布时间 2024-12-19
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Journal of the American College of Cardiology

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