JASReference:Hirayama T:Yamaki E:Hata A:Tsuji M:Hashimoto K:Yamamoto M:Emi M:,J Hum Genet,1998,43,250

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Title Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene
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Journal Journal of Human Genetics     
(8 pages)
Year 1998
Volume 43
Page 250

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Mut/285/C-A C95X exon3 Mut/285/C-A C74X exon3 This page
LDLR Mut/1136/G-A C379Y exon8 Mut/1136/G-A C358Y exon8 This page
LDLR Ins/1773/G G582fsX11 exon12 Ins/1773/G G571fsX11  exon12 This page
LDLR Mut/1822/C-T P608S exon12 Mut/1822/C-T P587S exon12 This page
LDLR Del/1963/T F655fsX10 exon11 Del/1963/T F634fsX10 exon11 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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