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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Hlavní autoři: Goldstein, Joseph L., Brown, Michael S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1973
Témata:
Biological Sciences: Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC427113/
https://ncbi.nlm.nih.gov/pubmed/4355366
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