JASReference:Soutar AK:Knight BL:Patel DD:,Proc Natl Acad Sci U S A,1989,86,4166: Difference between revisions
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{{JASReference|mutation= | {{JASReference|mutation= | ||
&&LDLR/Mut/2054/C-T&&P685L&&exon14 | &&LDLR/Mut/2054/C-T&&P685L&&exon14&&Mut/2054/C-T&&P664L&&exon14 | ||
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|title=Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors | |title=Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors | ||
|doi=10.1073/pnas.86.11.4166 | |doi=10.1073/pnas.86.11.4166 | ||
|pmid=2726768 | |pmid=2726768 | ||
}} | }} | ||
Revision as of 02:53, 27 March 2013
Details
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| Title | Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors |
| Author(s) | (Click a name to see records for each author.) |
| Journal | Proceedings of the National Academy of the United States of America (2 pages) |
| Year | 1989 |
| Volume | 86 |
| Page | 4166 |
Genetic mutations in this article
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How to input/edit information?
- Account Information
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。 |
- Format of the page
The format of the page title is here. The format of mutation information is here. |
