A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation |
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| Authors: | Sho Tanaka Akira Haketa Tohru Sakimoto Masanori Abe |
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| Affiliation: | 1. Division of Nephrology, Hypertension and Endocrinology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan;2. Division of Ophthalmology, Department of Visual Sciences, Nihon University School of Medicine, Tokyo, Japan |
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| 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. |
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| Keywords: | Apolipoprotein A-I Mutation Genome Whole exome sequencing Arteriosclerosis |
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