JASReference:Katsuren K:Fukuyama S:Takata K:Ohta T:,J Atheroscler Thromb,2003,10,32

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Title Effects of a new single-nucleotide polymorphism in the Acyl-CoA:cholesterol acyltransferase-2 gene on plasma lipids and apolipoproteins in patients with hyperlipidemia
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Journal Journal of Atherosclerosis and Thrombosis     
(9 pages)
Year 2003
Volume 10
Page 32

The authors' previous report showed that E14G, T254I, or IVS7 are unassociated (Katsuren K, Tamura T, Arashiro R, Takata K, Matsuura T, Niikawa N, and Ohta T: Structure of the human acyl-CoA:cholesterol acyltransferase-2 gene and its relation to dyslipidemia. Biochim Biophys Acta, 1531: 230-240, 2001)

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/-8/G-C IVS1 8 bp upstream of exon2 intron1 This page


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このデータベースは日本動脈硬化学会 脂質代謝部会が作成しています。入力等に協力していただける方は有田 arita AT k.u-tokyo.ac.jp までご連絡下さい。

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