Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-5.xlsx › SuppTable5
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.
Abedi AH et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023
Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.
Zuurbier LC et al.
Genes, 2021
A novel variant in LPL gene is associated with familial combined hyperlipidemia.
Taghizadeh E et al.
Biofactors (oxford, England), 2020
Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.
Minicocci I et al.
Atherosclerosis, 2015
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
Genetic screening of the LPL gene in hypertriglyceridaemic patients.
Wright WT et al.
Atherosclerosis, 2008
Common mutations of the lipoprotein lipase gene and their clinical significance.
Gehrisch S
Current Atherosclerosis Reports, 1999
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