A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation

作者：Tanaka Sho; Haketa Akira^*; Sakimoto Tohru; Abe Masanori

来源：Journal of Clinical Lipidology, 2018, 12(2): 509-512.

DOI：10.1016/j.jacl.2017.12.012

• Apolipoprotein A-I
• Mutation
• Genome
• Whole exome sequencing
• Arteriosclerosis

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.

• 出版日期2018-4