Article
Common and rare ABCA1 variants affecting plasma HDL cholesterol.
Arteriosclerosis, thrombosis, and vascular biology - 1 Aug 2000
Wang J, Burnett J R, Near S, Young K, Zinman B, Hanley A J, Connelly P W, Harris S B, Hegele R A
Abstract excerpt
Mutations in ABCA1, a member of the ATP-binding cassette family, have been shown to underlie Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA), which are genetic disorders that are characterized by depressed concentrations of plasma high density lipoprotein (HDL) cholesterol. An important question is whether common variants within the coding sequence of ABCA1 can affect plasma HDL cholesterol in...
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