JASReference:Maruyama T:Miyake Y:Yamamura T:Tajima S:Funahashi T:Matsuzawa Y:Yamamoto A:,Hum Mutat,1998,11,480: Difference between revisions
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|title=A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online | |title=A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online | ||
|doi=10.1002/(SICI)1098-1004(1998)11:6 | |doi=10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W | ||
|pmid=10200052 | |pmid=10200052 | ||
}} | }} | ||
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| Title | A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online |
| Author(s) | (Click a name to see records for each author.) |
| Journal | Human Mutation (2 pages) |
| Year | 1998 |
| Volume | 11 |
| Page | 480 |
Genetic mutations in this article
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How to input/edit information?
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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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