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...

Täydet tiedot

Bibliografiset tiedot

Julkaisussa:	Proc Natl Acad Sci U S A
Päätekijät:	Goldstein, Joseph L., Brown, Michael S.
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	National Academy of Sciences 1973
Aiheet:	Biological Sciences: Genetics
Linkit:	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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