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

[hide]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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