Article
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency.
Arteriosclerosis, thrombosis, and vascular biology - 1 Mar 1998
Huang W, Sasaki J, Matsunaga A, Nanimatsu H, Moriyama K, Han H, Kugi M, Koga T, Yamaguchi K, Arakawa K
Abstract excerpt
We analyzed the genetic defect in a 67-year-old Japanese male patient with apolipoprotein (apo) A-I and high density lipoprotein (HDL) deficiencies, corneal opacities, and coronary artery disease. The plasma concentrations of apoA-I and HDL cholesterol were 2.9 to 7.3 mg/dL and 0.08 to 0.19 mmol/L, respectively. The lecithin:cholesterol acyltransferase (LCAT) activity and cholesterol esterification rate were <40%...
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