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Familial Hypercholesterolemia: Identification of a Defect in the Regulation of 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Activity Associated with Overproduction of Cholesterol
The homozygous form of the autosomal dominant disorder, familial hypercholesterolemia, is characterized by the presence in children of profound hypercholesterolemia, cutaneous planar xanthomas, and rapidly progressive coronary vascular disease that usually results in death before age 30 years. Cultu...
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| Published in: | Proc Natl Acad Sci U S A |
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| Main Authors: | , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
National Academy of Sciences
1973
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC427113/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4355366/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.70.10.2804 |
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