A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

Epidemiologic data of recent years have identified an important role of HDL deficiency in the etiology of atherosclerosis. Biochemical data suggest that some of these deficiencies may be a consequence of defects in the structural genes of HDL apolipoproteins or of plasma enzymes that modify HDL. We...

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Bibliografske podrobnosti

izdano v:	J Clin Invest
Principais autores:	Funke, H, von Eckardstein, A, Pritchard, P H, Karas, M, Albers, J J, Assmann, G
Format:	Artigo
Jezik:	Inglês
Izdano:	American Society for Clinical Investigation 1991
Teme:	Research Article
Online dostop:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295069/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1898657/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114997
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