JASReference:Gotoda T:Yamada N:Murase T:Sakuma M:Murayama N:Shimano H:Kozaki K:Albers JJ:Yazaki Y:Akanuma Y:,Lancet,1991,338,778

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Title Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
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Journal Lancet     
(0 pages)
Year 1991
Volume 338
Page 778

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Ins/492/GGC 164-165insG exon4 /Ins/521/GGC 140-141insG exon4 This page
Mut/756/C-A N252K exon6 Mut/784/C-A N228K exon6 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。