Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8668424 | Journal of Clinical Lipidology | 2018 | 15 Pages |
Abstract
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.
Related Topics
Health Sciences
Medicine and Dentistry
Cardiology and Cardiovascular Medicine
Authors
Sho MD, PhD, Akira MD, PhD, Tohru MD, PhD, Masanori MD, PhD,