Article
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.
Lancet (London, England) - 16 Oct 1999
Marcil M, Brooks-Wilson A, Clee S M, Roomp K, Zhang L H, Yu L, Collins J A, van Dam M, Molhuizen H O, Loubster O, Ouellette B F, Sensen C W, Fichter K, Mott S, Denis M, Boucher B, Pimstone S, Genest J, Kastelein J J, Hayden M R
Abstract excerpt
BACKGROUND: A low concentration of HDL cholesterol is the most common lipoprotein abnormality in patients with premature atherosclerosis. We have shown that Tangier disease, a rare and severe form of HDL deficiency characterised by a biochemical defect in cellular cholesterol efflux, is caused by mutations in the ATP-binding-cassette (ABC1) gene. This gene codes for the cholesterol-efflux regulatory protein...
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