JASReference:Hattori H:Nagano M:Iwata F:Homma Y:Egashira T:Okada T:,Hum Mutat,1999,14,87

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Title Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online
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Journal Human Mutation     
(2 pages)
Year 1999
Volume 14
Page 87

Genetic mutations in this article

[hide]Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Del/355/7 G119AfsX85 exon4 Del/355/7 G98AfsX85 exon4 This page
LDLR Dup/661/21 D221-D227dup exon4 Dup/661/21 D200-D206dup  exon4 This page
LDLR Dup/1242/5 R416fsX12 exon9 Dup/1242/5 R395fsX12 exon9 This page
LDLR Mut/1291/G-A A431T exon9 Mut/1291/G-A A410T exon9 This page
LDLR Mut/1599/G-A W523X exon11 Mut/1599/G-A W512X exon11 This page
LDLR Ins/1687/C N564QfsX16 exon11 Ins/1687/C N543QfsX16 exon11 This page
LDLR Mut/1702/C-G L568V exon11 Mut/1702/C-G L547V exon11 This page
LDLR Ins/2035/T Y679LfsX38 exon14 Ins/2035/T Y658LfsX38 exon14 This page
LDLR Mut/2140/G-A E714K exon14 Mut/2140/G-A E693K exon14 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。