JASReference:Yang XP:Inazu A:Honjo A:Koizumi I:Kajinami K:Koizumi J:Marcovina SM:Albers JJ:Mabuchi H:,J Lipid Res,1997,38,585

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Title Catalytically inactive lecithin: cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency
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Journal Journal of Lipid Research     
(13 pages)
Year 1997
Volume 38
Page 585

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/160/G-A G54S exon2 Mut/188/G-A G30S exon2 This page


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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。