Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Medeiros AM, Alves AC, Miranda B, Chora JR, Bourbon M; investigators of the Portuguese FH Study.
Medeiros AM, et al.
J Lipid Res. 2024 Feb;65(2):100490. doi: 10.1016/j.jlr.2023.100490. Epub 2023 Dec 18.
J Lipid Res. 2024.
PMID: 38122934
Free PMC article.
A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. ...Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, othe …
A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score …