Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
39731075 (PubMed )
Supplement: 12944_2024_2406_MOESM1_ESM.xlsx › Sheet1
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Xiang R et al.
Atherosclerosis, 2017
Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia.
Jansen AC et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2005
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