JASReference:Varret M:Rabes JP:Thiart R:Kotze MJ:Baron H:Cenarro A:Descamps O:Ebhardt M:Hondelijn JC:Kostner GM:Miyake Y:Pocovi M:Schmidt H:Schuster H:Stuhrmann M:Yamamura T:Junien C:Beroud C:Boileau C:,Nucleic Acids Res,1998,26,248

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Title	LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis
Author(s)	Varret_M   Rabes_JP   Thiart_R   Kotze_MJ   Baron_H   Cenarro_A   Descamps_O   Ebhardt_M   Hondelijn_JC   Kostner_GM   Miyake_Y   Pocovi_M   Schmidt_H   Schuster_H   Stuhrmann_M   Yamamura_T   Junien_C   Beroud_C   Boileau_C  　  　(Click a name to see records for each author.)
Journal	Nucleic Acids Research      Other reports in this journal (0 pages)
Year	1998
Volume	26
Page	248

Genetic mutations in this article

Reported Mutations (notation help)

Gene Mutation Effect Position Original Information in the Paper Reference LDLR Mut/139/G-A D47N exon2 Mut/139/G-A D26N exon2 This page LDLR Mut/344/G-A R115H exon4 Mut/344/G-A R94H exon4 This page LDLR Mut/1012/T-C C338R exon7 Mut/1012/T-C C317R exon7 This page LDLR Mut/1066/G-C D356H exon8 Mut/1066/G-C D335H exon8 This page LDLR Mut/1207/T-C F403L exon9 Mut/1207/T-C F382L exon9 This page LDLR Mut/1285/G-A V429M exon9 Mut/1285/G-A V408M exon9 This page LDLR Mut/1784/G-A R595Q exon12 Mut/1784/G-A R574Q exon12 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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