JASReference:Maruyama T:Miyake Y:Tajima S:Funahashi T:Matsuzawa Y:Yamamoto A:,Eur J Biochem,1995,232,700

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Title A single point mutation in the splice donor site of the low-density-lipoprotein-receptor gene produces intron read-through, exon-skipped and cryptic-site-utilized transcripts
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Journal European Journal of Biochemistry     
(1 pages)
Year 1995
Volume 232
Page 700

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Mut/1845+2/T-C 5'splice_donor_mutation intron12 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。