Tangier disease (TD), caused by mutations in the ATP-binding cassette 1 (ABC-1) gene, is a
rare genetic disorder characterized by severe deficiency of high density lipoproteins (HDL)
in the plasma, hypercatabolism of HDL, and defective apolipoprotein (apo)-mediated
cellular cholesterol efflux. In the present study, we assessed plasma lipid concentrations,
HDL particle size and subspecies, and cellular cholesterol efflux in 9 TD heterozygotes from
a kindred in which the proband was homozygous for an A→ C missense mutation at …