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Article

Compound heterozygosity for an apolipoprotein A1 gene promoter mutation and a structural nonsense mutation with apolipoprotein A1 deficiency.

Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 1999

Matsunaga A, Sasaki J, Han H, Huang W, Kugi M, Koga T, Ichiki S, Shinkawa T, Arakawa K

Abstract excerpt

Apolipoprotein (apo) A1 plays a central role in the metabolism of HDL. We describe a novel genetic variant of the apoA1 gene identified in a patient with low concentrations of plasma HDL cholesterol. The proband, a 12-year-old Japanese boy, exhibited markedly low levels of both plasma apoA1 and HDL cholesterol. Genomic DNA sequencing of apoA1 genes of the patient showed a compound heterozygosity for an A to C...

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Source

Identifiers

PMID: 9974418
DOI: 10.1161/01.atv.19.2.348

Genes

CAT

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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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