Article
Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.
American journal of epidemiology - 1 Sept 2004
Austin Melissa A, Hutter Carolyn M, Zimmern Ron L, Humphries Steve E
Abstract excerpt
The clinical phenotype of heterozygous familial hypercholesterolemia (FH) is characterized by increased plasma levels of total cholesterol and low density lipoprotein cholesterol, tendinous xanthomata, and premature symptoms of coronary heart disease. It is inherited as an autosomal dominant disorder with homozygotes having a more severe phenotype than do heterozygotes. FH can result from mutations in the low...
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