Template:JAS/AllMutation

Revision as of 04:48, 19 June 2013 by Adm (talk | contribs)
{{#lua: for aus, au, ja, yr, mut, eff, pos, etc in stdin:gmatch("&&((%w+)%S+:,([%w_]+),(%d+),[^&]+)&&([^&]+)&&([^&]+)&&([^&\n]+)") do print("|" .. mut .. " \n| " .. eff .. " \n| " .. pos .. " \n| " .. au .." (".. yr ..") ".. ja .. "\n|-\n") end
Mutation Effect Position Reference

&&Emi_M:Yamaki_E:Hirayama_T:Katsumata_H:Pozharov_V:Wu_LL:Hopkins_PN:Williams_RR:,Jpn_Heart_J,1998,39,785&&LDLR/Mut/223/T-A&&C75S&&exon3&&Mut/223/T-A&&C54S&&exon3 &&Funahashi_T:Yamashita_S:Maruyama_T:Ueyama_Y:Menju_M:Nagai_Y:Takemura_K:Miyake_Y:Tajima_S:Matsuzawa_Y:,J_Intern_Med,1996,239,187&&LDLR/Mut/1012/T-A&&C338S&&exon7&&Mut/1012/T-A&&C317S&&exon7 &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Del/578/7&&D193fsX11&&exon4&&Del/578/7&&D172fsX11&&exon4 &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Ins/682/14&&E228fsX42&&exon4&&Ins/682/14&&E207fsX42&&exon4 &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Del/943/49&&N315fsX39&&exon7&&Del/943/49&&N294fsX39&&exon7 &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Mut/1072/T-C&&C358R&&exon8&&Mut/1072/T-C&&C337R&&exon8 &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Ins/1687/C&&N564QfsX16&&exon11&&Ins/1687/C&&N543QfsX16&&exon11 &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Mut/1705+1/G-C&&5'splice_donor_mutation&&intron11&& &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Mut/1705+1/G-T&&5'splice_donor_mutation&&intron11&& &&Hattori_H:Hirayama_T:Nobe_Y:Nagano_M:Kujiraoka_T:Egashira_T:Ishii_J:Tsuji_M:Emi_M:,J_Hum_Genet,2002,47,80&&LDLR/Mut/1731/G-T&&W577C&&exon12&&Mut/1731/G-T&&W556C&&exon12 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Del/355/7&&G119AfsX85&&exon4&&Del/355/7&&G98AfsX85&&exon4 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Dup/661/21&&D221-D227dup&&exon4&&Dup/661/21&&D200-D206dup &&exon4 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Dup/1242/5&&R416fsX12&&exon9&&Dup/1242/5&&R395fsX12&&exon9 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Mut/1291/G-A&&A431T&&exon9&&Mut/1291/G-A&&A410T&&exon9 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Mut/1599/G-A&&W523X&&exon11&&Mut/1599/G-A&&W512X&&exon11 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Ins/1687/C&&N564QfsX16&&exon11&&Ins/1687/C&&N543QfsX16&&exon11 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Mut/1702/C-G&&L568V&&exon11&&Mut/1702/C-G&&L547V&&exon11 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Ins/2035/T&&Y679LfsX38&&exon14&&Ins/2035/T&&Y658LfsX38&&exon14 &&Hattori_H:Nagano_M:Iwata_F:Homma_Y:Egashira_T:Okada_T:,Hum_Mutat,1999,14,87&&LDLR/Mut/2140/G-A&&E714K&&exon14&&Mut/2140/G-A&&E693K&&exon14 &&Higashikata_T:,Domyakukoka,1996,23,847&&LDLR/Mut/2215/C-T&&Q739X&&exon15&&Mut/2215/C-T&&Q718X&&exon15 &&Hirayama_T:Yamaki_E:Hata_A:Tsuji_M:Hashimoto_K:Yamamoto_M:Emi_M:,J_Hum_Genet,1998,43,250&&LDLR/Mut/285/C-A&&C95X&&exon3&&Mut/285/C-A&&C74X&&exon3 &&Hirayama_T:Yamaki_E:Hata_A:Tsuji_M:Hashimoto_K:Yamamoto_M:Emi_M:,J_Hum_Genet,1998,43,250&&LDLR/Mut/1136/G-A&&C379Y&&exon8&&Mut/1136/G-A&&C358Y&&exon8 &&Hirayama_T:Yamaki_E:Hata_A:Tsuji_M:Hashimoto_K:Yamamoto_M:Emi_M:,J_Hum_Genet,1998,43,250&&LDLR/Ins/1773/G&&G582fsX11&&exon12&&Ins/1773/G&&G571fsX11 &&exon12 &&Hirayama_T:Yamaki_E:Hata_A:Tsuji_M:Hashimoto_K:Yamamoto_M:Emi_M:,J_Hum_Genet,1998,43,250&&LDLR/Mut/1822/C-T&&P608S&&exon12&&Mut/1822/C-T&&P587S&&exon12 &&Hirayama_T:Yamaki_E:Hata_A:Tsuji_M:Hashimoto_K:Yamamoto_M:Emi_M:,J_Hum_Genet,1998,43,250&&LDLR/Del/1963/T&&F655fsX10&&exon11&&Del/1963/T&&F634fsX10&&exon11 &&Hirota_R:Kubo_N:Hikiji_K:Nakajima_K:Hata_Y:Sakurabayashi_I:,Ann_Clin_Biochem,2002,39,526&&LDLR/Ins/327/C&&S110LfsX20&&exon4&&Ins/327/C&&S89LfsX20&&exon4 &&Kajinami_K:Fujiota_HJ:Koizumi_J:Mabuchi_H:Takeda_R:Ohta_M:,Circulation,1989,80,278&&LDLR/Del/In1-In3/10k&&-&&exon2-3 &&Kajinami_K:Mabuchi_H:Inazu_A:Fujita_H:Koizumi_J:Takeda_R:Matsue_T:Kibata_M:,J_Intern_Med,1990,227,247&&LDLR/Del/Ex2-Ex4/12k&&-&&exon2-4 &&Kajinami_K:Mabuchi_H:Inazu_A:Fujita_H:Koizumi_J:Takeda_R:Matsue_T:Kibata_M:,J_Intern_Med,1990,227,247&&LDLR/Del/Ex7-Ex14/13k&&-&&exon7-14 &&Kajinami_K:Mabuchi_H:Itoh_H:Michishita_I:Takeda_M:Wakasugi_T:Koizumi_J:Takeda_R:,Arterioscler_Thromb_Vasc_Biol,1988,8,187&&LDLR/Del/Ex15/6k&&-&&exon15 &&Kajinami_K:Mabuchi_H:Itoh_H:Michishita_I:Takeda_M:Wakasugi_T:Koizumi_J:Takeda_R:,Atherosclerosis,1988,8,187&&LDLR/Del/In14-In15/6k&&6 kb deletion&&Exon15 &&Kigawa_K:Kihara_K:Miyake_Y:Tajima_S:Funahashi_T:Yamamura_T:Yamamoto_A:,J_Biochem,1993,113,372&&LDLR/Del/In1-In3/5k&&-&&exons2-3 &&Mabuchi_H:Nohara_A:Noguchi_T:Kobayashi_J:Kawashiri_MA:Tada_H:Nakanishi_C:Mori_M:Yamagishi_M:Inazu_A:Koizumi_J:,Atherosclerosis,2011,214,404&&LDLR/Del/Ex2-3/Ex2-3&&-&&exon2-3 &&Mabuchi_H:Nohara_A:Noguchi_T:Kobayashi_J:Kawashiri_MA:Tada_H:Nakanishi_C:Mori_M:Yamagishi_M:Inazu_A:Koizumi_J:,Atherosclerosis,2011,214,404&&LDLR/Dup/Ex3-6/Ex3-6&&-&&exon3-6 &&Mabuchi_H:Nohara_A:Noguchi_T:Kobayashi_J:Kawashiri_MA:Tada_H:Nakanishi_C:Mori_M:Yamagishi_M:Inazu_A:Koizumi_J:,Atherosclerosis,2011,214,404&&LDLR/-/codon159/-&&W159X&&exon4 &&Mabuchi_H:Nohara_A:Noguchi_T:Kobayashi_J:Kawashiri_MA:Tada_H:Nakanishi_C:Mori_M:Yamagishi_M:Inazu_A:Koizumi_J:,Atherosclerosis,2011,214,404&&LDLR/Mut/IVS15-3/C-A&&-&&intron15 &&Maruyama_T:Miyake_Y:Tajima_S:Funahashi_T:Matsuzawa_Y:Yamamoto_A:,Eur_J_Biochem,1995,232,700&&LDLR/Mut/1845+2/T-C&&5'splice_donor_mutation&&intron12&& &&Maruyama_T:Miyake_Y:Tajima_S:Harada-Shiba_M:Yamamura_T:Tsushima_M:Kishino_B:Horiguchi_Y:Funahashi_T:Matsuzawa_Y:Yamamoto_A:,Arterioscler_Thromb_Vasc_Biol,1995,15,1713&&LDLR/Mut/418/G-A&&E130K&&exon4&&Mut/418/G-A&&E119K&&exon4 &&Maruyama_T:Miyake_Y:Tajima_S:Harada-Shiba_M:Yamamura_T:Tsushima_M:Kishino_B:Horiguchi_Y:Funahashi_T:Matsuzawa_Y:Yamamoto_A:,Arterioscler_Thromb_Vasc_Biol,1995,15,1713&&LDLR/Mut/1845+2/T-C&&5'splice donor mutation&&Mut/1845+2/T-C&&5'splice donor mutation &&Maruyama_T:Miyake_Y:Tajima_S:Harada-Shiba_M:Yamamura_T:Tsushima_M:Kishino_B:Horiguchi_Y:Funahashi_T:Matsuzawa_Y:Yamamoto_A:,Arterioscler_Thromb_Vasc_Biol,1995,15,1713&&LDLR/Mut/2054/C-T&&P685L&&exon14&&Mut/2054/C-T&&P664L&&exon14 &&Maruyama_T:Miyake_Y:Tajima_S:Harada-Shiba_M:Yamamura_T:Tsushima_M:Kishino_B:Horiguchi_Y:Funahashi_T:Matsuzawa_Y:Yamamoto_A:,Arterioscler_Thromb_Vasc_Biol,1995,15,1713&&LDLR/Mut/2431/A-T&&K811X&&exon17&&Mut/2431/A-T&&K790X&&exon17 &&Maruyama_T:Miyake_Y:Yamamura_T:Tajima_S:Funahashi_T:Matsuzawa_Y:Yamamoto_A:,Hum_Mutat,1998,11,480&&LDLR/Mut/68-1/G-C&&3'splice_acceptor_mutation&&exon1 &&Miyake_Y:,Domyakukoka,1997,24,733&&LDLR/Mut/1502/C-A&&A501E&&exon10&&Mut/1502/C-A&&A480E&&exon10 &&Miyake_Y:Tajima_S:Funahashi_T:Yamamoto_A:,J_Biol_Chem,1989,364,16584&&LDLR/Del/Ex7-14/12k&&-&&exon7-14 &&Miyake_Y:Tajima_S:Funahashi_T:Yamamura_T:Yamamoto_A:,Eur_J_Biochem,1992,210,1&&LDLR/Mut/1297/G-C&&D433H&&exon9&&Mut/1297/G-C&&D412H&&exon9 &&Miyake_Y:Tajima_S:Yamamura_T:Yamamoto_A:,Proc_Natl_Acad_Sci_U_S_A,1981,78,5151&&LDLR/Del/Ex16-18/7.8k&&-&&exon16-18 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/-137/C-T&&-&&promoter &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/-134/C-T&&-&&promoter &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex1/Ex1&&-&&exon1 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1/A-C&&M1L&&exon1&&Mut/1/A-C&&M-21L&&exon1 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/20/AA&&K7IfsX21&&exon1&&Del/20/AA&&K-15IfsX21&&exon1 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/29/G-A&&W10X&&exon1&&Mut/29/G-A&&W-12X&&exon1 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex2-6/Ex2-6&&-&&exon2-6 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/283/T-G&&C95G&&exon3&&Mut/283/T-G&&C74G&&exon3 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/301/G-A&&E101K&&exon3&&Mut/301/G-A&&E80K&&exon3 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/401/G-T&&C134F&&exon4&&Mut/401/G-T&&C113F&&exon4 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/500/G-A&&C167Y&&exon4&&Mut/500/G-A&&C146Y&&exon4 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/666/C-A&&C222X&&exon4&&Mut/666/C-A&&C201X &&exon4 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Dup/667/15&&K223-D227dup&&exon4&&Dup/667/15&&K202-D206dup&&exon4 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/681/C-A&&D227E&&exon4&&Mut/681/C-A&&D206E&&exon4 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/682/G-A&&E228K&&exon4&&Mut/682/G-A&&E207K&&exon4 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex5/Ex5&&-&&exon5 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/828/C-A&&C276X&&exon6&&Mut/828/C-A&&C255X&&exon6 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/883/G-T&&V295F&&exon6&&Mut/883/G-T&&V274F&&exon6 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1028/G-T&&G343V&&exon7&&Mut/1028/G-T&&G322V&&exon7 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Ins/1062/T&&I355fsX3&&exon8&&Ins/1062/T&&I334fsX3&&exon8 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1069/G-T&&E357X&&exon8&&Mut/1069/G-T&&E357X&&exon8 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Dup/1107/5&&L371fsX44&&exon8&&Dup/1107/5&&L371fsX44&&exon8 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/1111/21&&L371-C377del&&exon8&&Del/1111/21&&L350-C356del&&exon8 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1265/T-G&&L422R&&exon9&&Mut/1265/T-G&&L401R&&exon9 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex9-10/Ex9-10&&-&&exon9-10 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1562/C-T&&A521V&&exon10&&Mut/1562/C-T&&A500V&&exon10 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1618/G-A&&A530T&&exon11&&Mut/1618/G-A&&A519T&&exon11 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1691/A-G&&N564S&&exon11&&Mut/1691/A-G&&N543S&&exon11 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/1845+1/G-A&&5'splice_donor_mutation&&intron12 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex13-15/Ex13-15&&-&&exon13-15 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex13-18/Ex13-18&&-&&exon13-18 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/Ex16-17/4k&&-&&exon16-17 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/2042/G-C&&C681S&&exon14&&Mut/2042/G-C&&C660S&&exon14 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/2087/G-T&&C696F&&exon14&&Mut/2087/G-T&&C675F&&exon14 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Del/2102/G&&G701fsX8&&exon14&&Del/2102/G&&G680fsX8&&exon14 &&Miyake_Y:Yamamura_T:Sakai_N:Miyata_T:Kokubo_Y:Yamamoto_A:,Atherosclerosis,2009,203,153&&LDLR/Mut/2389/G-A&&V797M&&exon16&&Mut/2389/G-A&&V776M&&exon16 &&Takahashi_M:Ikeda_U:Takahashi_S:Hattori_H:Iwasaki_T:Ishihara_M:Egashira_T:Honma_S:Asano_Y:Shimada_K:,Clin_Genet,2001,59,290&&LDLR/Mut/137/G-C&&C25S&&exon2 &&Tashiro_J:Endo_M:Bujo_H:Shinomiya_M:Morisaki_N:Saito_Y:,Eur_J_Clin_Invest,1988,28,712&&LDLR/Del/2201/CA&&F74SfsX47&&exon15&&Del/2201/CA&&F713SfsX47&&exon15 &&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&&LDLR/Mut/139/G-A&&D47N&&exon2&&Mut/139/G-A&&D26N&&exon2 &&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&&LDLR/Mut/344/G-A&&R115H&&exon4&&Mut/344/G-A&&R94H&&exon4 &&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&&LDLR/Mut/1012/T-C&&C338R&&exon7&&Mut/1012/T-C&&C317R&&exon7 &&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&&LDLR/Mut/1066/G-C&&D356H&&exon8&&Mut/1066/G-C&&D335H&&exon8 &&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&&LDLR/Mut/1207/T-C&&F403L&&exon9&&Mut/1207/T-C&&F382L&&exon9 &&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&&LDLR/Mut/1285/G-A&&V429M&&exon9&&Mut/1285/G-A&&V408M&&exon9 &&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&&LDLR/Mut/1784/G-A&&R595Q&&exon12&&Mut/1784/G-A&&R574Q&&exon12 &&Yagi_K:,Domyakukoka,1994,22,100&&LDLR/Mut/1246/C-T&&R416W&&exon9&&Mut/1246/C-T&&R395W&&exon9 &&Yamakawa-Kobayashi_K:Kobayashi_T:Saku_K:Arakawa_K:Hamaguchi_H:,Hum_Genet,1993,92,331&&LDLR/Ins/1247/5&&R416fsX12&&exon9&&Ins/1247/5&&R395fsX12&&exon9 &&Yamakawa-Kobayashi_K:Kobayashi_T:Saku_K:Arakawa_K:Hamaguchi_H:,Hum_Genet,1993,92,331&&LDLR/Del/1655/T&&I552TfsX15&&exon11&&Del/1655/T&&I531TfsX15&&exon11 &&Yamakawa-Kobayashi_K:Kobayashi_T:Yanagi_H:Shimakura_Y:Satoh_J:Hamaguchi_H:,Hum_Genet,1994,93,625&&LDLR/DelIns/1115-1123/AGGGTGGCT-CACTGA&&E372-Y375delinsALN&&exon8&&DelIns/1115-1123/CACTGA &&E351-Y354delinsALN&&exon8 &&Yamakawa_K:Takada_K:Yanagi_H:Tsuchiya_S:Kawai_K:Nakagawa_S:Kajiyama_G:Hamaguchi_H:,Hum_Genet,1989,82,317&&LDLR/Del/In1-In3/5k&&-&&exon2-3 &&Yamakawa_K:Takada_K:Yanagi_H:Tsuchiya_S:Kawai_K:Nakagawa_S:Kajiyama_G:Hamaguchi_H:,Hum_Genet,1989,82,317&&LDLR/Del/Ex15-16/5.5k&&-&&exon15-16 &&Yamakawa_K:Takada_K:Yanagi_H:Tsuchiya_S:Kawai_K:Nakagawa_S:Kajiyama_G:Hamaguchi_H:,Hum_Genet,1989,82,317&&LDLR/Del/Ex16-17/4k&&-&&exon16-17 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/131/G-A&&W44X&&exon2&&Mut/131/G-A&&W23X&&exon2 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/137/G-A&&C46Y&&exon2&&Mut/137/G-A&&C25Y&&exon2 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Del/230/G&&G77AfsX53&&exon3&&Del/230/G&&G56fsX53&&exon3 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/244/G-T&&C82F&&exon3&&Mut/244/G-T&&C61F&&exon3 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/288/G-T&&C95F&&exon3&&Mut/288/G-T&&C74F&&exon3 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/361/T-G&&C121G&&exon4&&Mut/361/T-G&&C100G&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/388/T-A&&S130T&&exon4&&Mut/388/T-A&&S109T&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Ins/389/C&&S130fsX50&&exon4&&Ins/389/C&&S109fsX50&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/463/T-C&&C155R&&exon4&&Mut/463/T-C&&C134R&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/478/T-C&&C160R&&exon4&&Mut/478/T-C&&C139R&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/550/T-C&&C184R&&exon4&&Mut/550/T-C&&C163R&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/565/G-A&&V189M&&exon4&&Mut/565/G-A&&V168M&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/611/G-C&&C204S&&exon4&&Mut/611/G-C&&C183S&&exon4 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/796/G-A&&D266N&&exon5&&Mut/796/G-A&&D245N&&exon5 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/797/A-G&&D266G&&exon5&&Mut/797/A-G&&D245G&&exon5 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/901/G-T&&D301Y&&exon6&&Mut/901/G-T&&D280Y&&exon6 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/1048/C-T&&R340X&&exon7&&Mut/1048/C-T&&R329X&&exon7 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Ins/1061/T&&D354fsX4&&exon8&&Ins/1061/T&&D333fsX4&&exon8 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/1252/G-A&&E418K&&exon9&&Mut/1252/G-A&&E397K&&exon9 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/1567/G-A&&V523M&&exon10&&Mut/1567/G-A&&V502M&&exon10 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/1587-1/G-A&&3'splice_acceptor_mutation&&intron10 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Del/1871/TCA&&I624del&&exon13&&Del/1871/TCA&&I603del&&exon13 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/1925/T-C&&L642S&&exon13&&Mut/1925/T-C&&L621S&&exon13 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/2026/G-A&&G676S&&exon14&&Mut/2026/G-A&&G655S&&exon14 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Del/2055/G&&P685fsX24&&exon14&&Del/2055/G&&P664fsX24&&exon14 &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Mut/2312-3/C-A&&3'splice_acceptor_mutation&&intron15&& &&Yu_W:Nohara_A:Higashikata_T:Lu_H:Inazu_A:Mabuchi_H:,Atherosclerosis,2002,165,335&&LDLR/Ins/2416/G&&V806fsX11&&exon17&&2416/G&&V785fsX11&&exon17

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