Article
Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia.
Atherosclerosis - 1 Jan 1998
Arca M, Jokinen E
Abstract excerpt
To evaluate mutations in the low density lipoprotein receptor (LDL-R) gene in moderate primary hypercholesterolemia, a combination of polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP) and direct sequencing, was used to screen the LDL-R gene in a selected population of 82 unrelated individuals with moderate elevation of plasma LDL-C [mean 4.55 +/- 0.55 mmol/l (176.4 +/- 21.6 mg/dl)]....
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