Associated Papers
Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.
Lou TW et al.
Journal of Clinical and Translational Hepatology, 2025
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T et al.
Journal of Atherosclerosis and Thrombosis, 2024
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
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
Di Leo E et al.
Molecular Genetics and Metabolism, 2009
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