View source for JASReference:Miyake Y:Yamamura T:Sakai N:Miyata T:Kokubo Y:Yamamoto A:,Atherosclerosis,2009,203,153

{{JASReference|mutation=
&&LDLR/Mut/-137/C-T&&-&&promoter
&&LDLR/Mut/-134/C-T&&-&&promoter
&&LDLR/Del/Ex1/Ex1&&-&&exon1
&&LDLR/Mut/1/A-C&&M1L&&exon1&&Mut/1/A-C&&M-21L&&exon1
&&LDLR/Del/20/AA&&K7IfsX21&&exon1&&Del/20/AA&&K-15IfsX21&&exon1
&&LDLR/Mut/29/G-A&&W10X&&exon1&&Mut/29/G-A&&W-12X&&exon1
&&LDLR/Del/Ex2-6/Ex2-6&&-&&exon2-6
&&LDLR/Mut/283/T-G&&C95G&&exon3&&Mut/283/T-G&&C74G&&exon3
&&LDLR/Mut/301/G-A&&E101K&&exon3&&Mut/301/G-A&&E80K&&exon3
&&LDLR/Mut/401/G-T&&C134F&&exon4&&Mut/401/G-T&&C113F&&exon4
&&LDLR/Mut/500/G-A&&C167Y&&exon4&&Mut/500/G-A&&C146Y&&exon4
&&LDLR/Mut/666/C-A&&C222X&&exon4&&Mut/666/C-A&&C201X &&exon4
&&LDLR/Dup/667/15&&K223-D227dup&&exon4&&Dup/667/15&&K202-D206dup&&exon4
&&LDLR/Mut/681/C-A&&D227E&&exon4&&Mut/681/C-A&&D206E&&exon4
&&LDLR/Mut/682/G-A&&E228K&&exon4&&Mut/682/G-A&&E207K&&exon4
&&LDLR/Del/Ex5/Ex5&&-&&exon5
&&LDLR/Mut/828/C-A&&C276X&&exon6&&Mut/828/C-A&&C255X&&exon6
&&LDLR/Mut/883/G-T&&V295F&&exon6&&Mut/883/G-T&&V274F&&exon6
&&LDLR/Mut/1028/G-T&&G343V&&exon7&&Mut/1028/G-T&&G322V&&exon7
&&LDLR/Ins/1062/T&&I355fsX3&&exon8&&Ins/1062/T&&I334fsX3&&exon8
&&LDLR/Mut/1069/G-T&&E357X&&exon8&&Mut/1069/G-T&&E357X&&exon8
&&LDLR/Dup/1107/5&&L371fsX44&&exon8&&Dup/1107/5&&L371fsX44&&exon8
&&LDLR/Del/1111/21&&L371-C377del&&exon8&&Del/1111/21&&L371-C377del&&exon8
&&LDLR/Mut/1265/T-G&&L422R&&exon9&&Mut/1265/T-G&&L401R&&exon9
&&LDLR/Del/Ex9-10/Ex9-10&&-&&exon9-10
&&LDLR/Mut/1562/C-T&&A521V&&exon10&&Mut/1562/C-T&&A500V&&exon10
&&LDLR/Mut/1618/G-A&&A530T&&exon11&&Mut/1618/G-A&&A519T&&exon11
&&LDLR/Mut/1691/A-G&&N564S&&exon11&&Mut/1691/A-G&&N543S&&exon11
&&LDLR/Mut/1845+1/G-A&&5'splice_donor_mutation&&intron12
&&LDLR/Del/Ex13-15/Ex13-15&&-&&exon13-15
&&LDLR/Del/Ex13-18/Ex13-18&&-&&exon13-18
&&LDLR/Del/Ex16-17/4k&&exon16-17
&&LDLR/Mut/2042/G-C&&C681S&&exon14&&Mut/2042/G-C&&C660S&&exon14
&&LDLR/Mut/2087/G-T&&C696F&&exon14&&Mut/2087/G-T&&C675F&&exon14
&&LDLR/Del/2102/G&&G701fsX8&&exon14&&Del/2102/G&&G680fsX8&&exon14
&&LDLR/Mut/2389/G-A&&V797M&&exon16&&Mut/2389/G-A&&V776M&&exon16
|title=Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population
|doi=10.1016/j.atherosclerosis.2008.07.005
|pmid=18718593
}}