Article
Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease.
Circulation - 1 Oct 1996
Miccoli R, Bertolotto A, Navalesi R, Odoguardi L, Boni A, Wessling J, Funke H, Wiebusch H, Eckardstein A, Assmann G
Abstract excerpt
BACKGROUND: The concentration of HDL cholesterol is inversely correlated with the risk of coronary heart disease (CHD). Some rare mutations in the apolipoprotein (apo) A-I gene are associated with low levels of HDL cholesterol. Their association with cardiovascular risk is controversial. METHODS AND RESULTS: We studied the molecular defects underlying corneal opacities and absence of HDL cholesterol in three...
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