A novel frameshift mutation in the lipoprotein lipase gene is rescued by alternative messenger RNA splicing
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine
Reference10 articles.
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3. Biochemistry and pathophysiology of intravascular and intracellular lipolysis;Young;Genes Dev,2013
4. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency;Rodrigues;J Clin Lipidol,2016
5. Mechanism and regulation of the nonsense-mediated decay pathway;Hug;Nucleic Acids Res,2016
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1. Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population;Archives of Endocrinology and Metabolism;2024
2. 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;Lipids in Health and Disease;2023-08-11
3. Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing;Frontiers in Medicine;2022-03-21
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