Article
Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion).
Atherosclerosis - 1 Nov 2009
Wada Masamichi, Iso Tatsuya, Asztalos Bela F, Takama Noriaki, Nakajima Tadashi, Seta Yukihiro, Kaneko Katsumi, Taniguchi Yasuhiro, Kobayashi Hideo, Nakajima Katsuyuki, Schaefer Ernst J, Kurabayashi Masahiko
Abstract excerpt
We report a novel apolipoprotein A-I (apoA-I) mutation identified in a 64-year-old patient with marked plasma high density lipoprotein (HDL) cholesterol (4 mg/dl) and apoA-I (5mg/dl) deficiency, prior myocardial infarction, and moderate corneal opacities. Coronary angiography revealed extensive atherosclerosis in all three major vessels. Genomic DNA sequencing of the proband revealed a homozygous novel deletion...
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