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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Funke, H, von Eckardstein, A, Pritchard, P H, Karas, M, Albers, J J, Assmann, G
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1991
Assuntos:
Research Article
Acesso em linha: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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