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Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study

BACKGROUND: Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular disease caused by elevated low-density lipoprotein cholesterol (LDL-C) levels. We determined the impact of a full next-generation sequencing (NGS) genetic panel on reclassification of patients...

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Detalles Bibliográficos
Autores principales: Guerin, Amanda, Iatan, Iulia, Ruel, Isabelle, Ngufor, Linda Fri, Genest, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: CMA Impact Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449021/
https://www.ncbi.nlm.nih.gov/pubmed/37607748
http://dx.doi.org/10.9778/cmajo.20220108