Article
Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.
Journal of lipid research - 1 Mar 2000
Brousseau M E, Schaefer E J, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp A L, Thurston L M, FitzGerald M G, Yasek-McKenna D, O'Neill G, Eberhart G P, Weiffenbach B, Ordovas J M, Freeman M W, Brown R H, Gu J Z
Abstract excerpt
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...
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