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
Author(s)	Maruyama_T   Miyake_Y   Tajima_S   Funahashi_T   Matsuzawa_Y   Yamamoto_A  　  　(Click a name to see records for each author.)
Journal	European Journal of Biochemistry      Other reports in this journal (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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