View source for JASReference:Yu W:Nohara A:Higashikata T:Lu H:Inazu A:Mabuchi H:,Atherosclerosis,2002,165,335

{{JASReference
|mutation=
&&LDLR/Mut/131/G-A&&W44X&&exon2&&Mut/131/G-A&&W23X&&exon2
&&LDLR/Mut/137/G-A&&C46Y&&exon2&&Mut/137/G-A&&C25Y&&exon2
&&LDLR/Del/230/G&&G77AfsX53&&exon3&&Del/230/G&&G56fsX53&&exon3
&&LDLR/Mut/244/G-T&&C82F&&exon3&&Mut/244/G-T&&C61F&&exon3
&&LDLR/Mut/288/G-T&&C95F&&exon3&&Mut/288/G-T&&C74F&&exon3
&&LDLR/Mut/361/T-G&&C121G&&exon4&&Mut/361/T-G&&C100G&&exon4
&&LDLR/Mut/388/T-A&&S130T&&exon4&&Mut/388/T-A&&S109T&&exon4
&&LDLR/Ins/389/C&&S130fsX50&&exon4&&Ins/389/C&&S109fsX50&&exon4
&&LDLR/Mut/463/T-C&&C155R&&exon4&&Mut/463/T-C&&C134R&&exon4
&&LDLR/Mut/478/T-C&&C160R&&exon4&&Mut/478/T-C&&C139R&&exon4
&&LDLR/Mut/550/T-C&&C184R&&exon4&&Mut/550/T-C&&C163R&&exon4
&&LDLR/Mut/565/G-A&&V189M&&exon4&&Mut/565/G-A&&V168M&&exon4
&&LDLR/Mut/611/G-C&&C204S&&exon4&&Mut/611/G-C&&C183S&&exon4
&&LDLR/Mut/796/G-A&&D266N&&exon5&&Mut/796/G-A&&D245N&&exon5
&&LDLR/Mut/797/A-G&&D266G&&exon5&&Mut/797/A-G&&D245G&&exon5
&&LDLR/Mut/901/G-T&&D301Y&&exon6&&Mut/901/G-T&&D280Y&&exon6
&&LDLR/Mut/1048/C-T&&R340X&&exon7&&Mut/1048/C-T&&R329X&&exon7
&&LDLR/Ins/1061/T&&D354fsX4&&exon8&&Ins/1061/T&&D333fsX4&&exon8
&&LDLR/Mut/1252/G-A&&E418K&&exon9&&Mut/1252/G-A&&E397K&&exon9
&&LDLR/Mut/1567/G-A&&V523M&&exon10&&Mut/1567/G-A&&V502M&&exon10
&&LDLR/Mut/1587-1/G-A&&3'splice_acceptor_mutation&&intron10
&&LDLR/Del/1871/TCA&&I624del&&exon13&&Del/1871/TCA&&I603del&&exon13
&&LDLR/Mut/1925/T-C&&L642S&&exon13&&Mut/1925/T-C&&L621S&&exon13
&&LDLR/Mut/2026/G-A&&G676S&&exon14&&Mut/2026/G-A&&G655S&&exon14
&&LDLR/Del/2055/G&&P685fsX24&&exon14&&Del/2055/G&&P664fsX24&&exon14
&&LDLR/Mut/2312-3/C-A&&3'splice_acceptor_mutation&&intron15&&
&&LDLR/Ins/2416/G&&V806fsX11&&exon17&&2416/G&&V785fsX11&&exon17
|title=Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population
|doi=10.1016/S0021-9150(02)00249-6
|pmid=12417285
}}