Article
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.
Circulation research - 18 Aug 2006
Singaraja Roshni R, Visscher Henk, James Erick R, Chroni Angeliki, Coutinho Jonathan M, Brunham Liam R, Kang Martin H, Zannis Vassilis I, Chimini Giovanna, Hayden Michael R
Abstract excerpt
Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels. However, wide variations in clinical lipid phenotypes are observed in patients with mutations in ABCA1. We hypothesized that the various lipid phenotypes would be the direct result of discrete and differing effects of...
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