Expanded genetic testing in familial hypercholesterolemia-A single center's experience

• Главные авторы: Emily E. Brown (Автор), Kathleen Byrne (Автор), Erin D. Michos (Автор), Thorsten M. Leucker (Автор), Francoise Marvel (Автор), Steven R. Jones (Автор), Seth S. Martin (Автор), Marios Arvanitis (Автор)
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• Опубликовано: Elsevier, 2024-06-01T00:00:00Z.
• Предметы: article
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Objective: Assess the yield of genetic testing for pathogenic variants in ABCG5, ABCG8, LIPA, and APOE in individuals with personal and family histories suggestive of familial hypercholesterolemia. Methods: Retrospective review of patients seen in the Advanced Lipid Disorders Clinic at Johns Hopkins...