Associated Papers
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
39858602 (PubMed )
Supplement: genes-16-00055-s001.zip › genes-3401157-supplementary.pdf
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Zhang G et al.
Lipids in Health and Disease, 2023
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Dron JS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Deciphering the role of V200A and N291S mutations leading to LPL deficiency.
Botta M et al.
Atherosclerosis, 2019
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.
Overgaard M et al.
Annals of Clinical Biochemistry, 2013
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