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

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。