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

• Hoofdauteurs: Emily E. Brown (Auteur), Kathleen Byrne (Auteur), Erin D. Michos (Auteur), Thorsten M. Leucker (Auteur), Francoise Marvel (Auteur), Steven R. Jones (Auteur), Seth S. Martin (Auteur), Marios Arvanitis (Auteur)
• Formaat: Boek
• Gepubliceerd in: Elsevier, 2024-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...