Journal
JOURNAL OF CLINICAL LIPIDOLOGY
Volume 12, Issue 2, Pages 509-512Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacl.2017.12.012
Keywords
Apolipoprotein A-I; Mutation; Genome; Whole exome sequencing; Arteriosclerosis
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Apolipoprotein A-I deficiency is a rare metabolic disease characterized by an impaired reverse cholesterol transport system resulting in excessive cholesterol accumulation. Here, we discuss a case of apolipoprotein A-I deficiency caused by a carboxyl-terminal truncation mutation p.His186ProfsX46 in APOA1, which might result in increased catabolism of the mutant protein. (C) 2017 National Lipid Association. All rights reserved.
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