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Article

Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects.

Arteriosclerosis, thrombosis, and vascular biology - 1 May 2007

Kiss Robert S, Kavaslar Nihan, Okuhira Kei-ichiro, Freeman Mason W, Walter Stephanie, Milne Ross W, McPherson Ruth, Marcel Yves L

Abstract excerpt

OBJECTIVE: We have used a multitiered approach to identify genetic and cellular contributors to high-density lipoprotein (HDL) deficiency in 124 human subjects. METHODS AND RESULTS: We resequenced 4 candidate genes for HDL regulation and identified several functional nonsynonymous mutations including 2 in apolipoprotein A-I (APOA1), 4 in lecithin:cholesterol acyltransferase (LCAT), 1 in phospholipid transfer...

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Topics

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Share to Apolipoprotein A-I
Share to Cholesterol, HDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol, LDL

Share to Electrophoresis, Agar Gel

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Share to Phospholipid Transfer Proteins

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Source

Identifiers

PMID: 17303779
DOI: 10.1161/ATVBAHA.106.137646

Genes

ABCA1
APOA1
LCAT
PLTP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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