Article
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.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1991
Funke H, von Eckardstein A, Pritchard P H, Albers J J, Kastelein J J, Droste C, Assmann G
Abstract excerpt
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 density lipoprotein deficiency, in which the predicted increased risk is not clearly apparent. One such disorder has...
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