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Related to Tangier disease: Fabry's disease
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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
Despite the recent characterization of ABCA1 mutations as the cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (2-5), there have been little data evaluating clinical measures of atherosclerosis in individuals with identified defects in ABCA1.
By analyzing the activity of 60,000 genes from people suffering from Tangier disease, a rare genetic disorder resulting in dangerously low levels of HDL, against genes from an unaffected individual, Richard Lawn, Ph.