Open AccessRecent advances in ABCG5 and ABCG8 variants
Author(s) -
Vincent Fong,
Shailendra B. Patel
Publication year - 2020
Publication title -
current opinion in lipidology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.412
H-Index - 124
eISSN - 1473-6535
pISSN - 0957-9672
DOI - 10.1097/mol.0000000000000734
Subject(s) - ezetimibe , familial hypercholesterolemia , disease , population , bioinformatics , medicine , biology , genetics , cholesterol , environmental health
In this review, we summarize the genetics and mechanisms of sitosterolemia and sterol trafficking, and provide an update on the understanding of the prevalence of ABCG5 and ABCG8 variants and their role in human disease.