Associated Papers
Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
Perera SD et al.
Current Opinion in Lipidology, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant.
Albers K et al.
Atherosclerosis, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
Dussaillant C et al.
Bmc Medical Genetics, 2012
Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.
Charrière S et al.
Atherosclerosis, 2009
Apoprotein A-V: an important regulator of triglyceride metabolism.
Kluger M et al.
Journal of Inherited Metabolic Disease, 2008
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia.
Priore Oliva C et al.
Atherosclerosis, 2006
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
Buonuomo PS et al.
Journal of Clinical Lipidology, 0
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