[HTML][HTML] Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

ME Brousseau, EJ Schaefer, J Dupuis, B Eustace… - Journal of lipid …, 2000 - ASBMB
Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a
marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases,
peripheral neuropathy and premature coronary heart disease (CHD). Homozygotes are
further characterized by cholesteryl ester deposition in various tissues throughout the body,
most notably in those of the reticuloendothelial system. Several studies have demonstrated
that the excess lipid deposition in TD is due to defective apolipoprotein-mediated efflux of …