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Article

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

Journal of clinical lipidology - 1 Jan 2000

Tanaka Sho, Haketa Akira, Sakimoto Tohru, Abe Masanori

Abstract excerpt

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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Source

Identifiers

PMID: 29396262
DOI: 10.1016/j.jacl.2017.12.012

Genes

APOA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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