JASReference:Yamakawa K:Takada K:Yanagi H:Tsuchiya S:Kawai K:Nakagawa S:Kajiyama G:Hamaguchi H:,Hum Genet,1989,82,317

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Title Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia
Author(s)
 
 
 
 
 
 
 
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Journal Human Genetics     
(12 pages)
Year 1989
Volume 82
Page 317

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Del/In1-In3/5k - exon2-3 This page
LDLR Del/Ex15-16/5.5k - exon15-16 This page
LDLR Del/Ex16-17/4k - exon16-17 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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ページタイトルの書式(書き方)はここにあります。遺伝子変異情報の書式(書き方)はここにあります。