JASReference:Okubo M:Hasegawa Y:Aoyama Y:Murase T:,Atherosclerosis,1997,130,153

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Title A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient
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Journal Atherosclerosis     
(19 pages)
Year 1997
Volume 130
Page 153

Exon 2 encodes the initial codon and its skip causes deficiency of apo C-II proteins.

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/55+1/G-C 5'splice_donor_mutation intron2 Mut/93+1/G-C 5'splice_donor_mutation exon 2 skip 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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