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

• Main Authors: Emily E. Brown (Author), Kathleen Byrne (Author), Erin D. Michos (Author), Thorsten M. Leucker (Author), Francoise Marvel (Author), Steven R. Jones (Author), Seth S. Martin (Author), Marios Arvanitis (Author)
• Format: Book
• Published: Elsevier, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...