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A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

Epidemiological as well as biochemical evidence of recent years has established that a low plasma level of high density lipoprotein-cholesterol is a predictor for the risk of coronary artery disease. However, there is a heterogeneous group of rare familial disorders, characterized by severe high den...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Funke, H, von Eckardstein, A, Pritchard, P H, Albers, J J, Kastelein, J J, Droste, C, Assmann, G
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC51765/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2052566/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.11.4855
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