JASReference:Moriyama K:Sasaki J:Arakawa F:Takami N:Maeda E:Matsunaga A:Takada Y:Midorikawa K:Yanase T:Yoshino G:Marcovina SM:Albers JJ:Arakawa K:,J Lipid Res,1995,36,2329

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Title Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser)
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Journal Journal of Lipid Research     
(13 pages)
Year 1995
Volume 36
Page 2329

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Del/862/G V288fsX121 exon6 Del/873/G V264fsX121 exon6 This page
Mut/1102/G-A G368S exon6 Mut/1130/G-A G344S exon6 This page


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Account Information

This database is maintained by the subcommittee for Lipid Metabolism in Japan Atherosclerosis Society. If you volunteer to contribute, please contact arita AT k.u-tokyo.ac.jp.

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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ページタイトルの書式(書き方)はここにあります。遺伝子変異情報の書式(書き方)はここにあります。