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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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Funke, H, von Eckardstein, A, Pritchard, P H, Albers, J J, Kastelein, J J, Droste, C, Assmann, G
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1991
Soggetti:	Research Article
Accesso online:	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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