A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation
2017
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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