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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Lipoprotein Lipase Deficiency.
Kuthiroly S et al.
Indian Journal of Pediatrics, 2021
What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?
Jeff JM et al.
Current Opinion in Lipidology, 2016
Novel therapies for severe dyslipidemia originating from human genetics.
Gaudet D
Current Opinion in Lipidology, 2016
Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
Crosby J et al.
The New England Journal of Medicine, 2014
Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
Chokshi N et al.
Journal of Clinical Lipidology, 0
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0
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