Method, reagent and kit for evaluating susceptibility to prematu

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 911, 435 912, 435810, 536 232, 536 243, 536 2431, 536 2433, 536 245, C07H 2104, C12P 1934, C12Q 168

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056587295

ABSTRACT:
A single point mutation in the human lipoprotein lipase gene which results in an A.fwdarw.G nucleotide change at codon 291 (nucleotide 1127) of the lipoprotein lipase gene, and a substitution of serine for the normal asparagine in the lipoprotein lipase gene product is seen with increased frequency in patients with coronary artery disease, and is associated with an increased susceptibility to coronary artery disease, including in particular premature atherosclerosis. This is expressed as a diminished catalytic activity of lipoprotein lipase, lower HDL-cholesterol levels and higher triglyceride levels. Thus, susceptibility of a human individual to premature atherosclerosis and other forms of coronary artery disease can be evaluated by

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