View source for JASReference:Hattori H:Hirayama T:Nobe Y:Nagano M:Kujiraoka T:Egashira T:Ishii J:Tsuji M:Emi M:,J Hum Genet,2002,47,80

{{JASReference|mutation=
&&LDLR/Del/578/7&&D193fsX11&&exon4&&Del/578/7&&D172fsX11&&exon4
&&LDLR/Ins/682/14&&E228fsX42&&exon4&&Ins/682/14&&E207fsX42&&exon4
&&LDLR/Del/943/49&&N315fsX39&&exon7&&Del/943/49&&N294fsX39&&exon7
&&LDLR/Mut/1072/T-C&&C358R&&exon8&&Mut/1072/T-C&&C337R&&exon8
&&LDLR/Ins/1687/C&&N564QfsX16&&exon11&&Ins/1687/C&&N543QfsX16&&exon11
&&LDLR/Mut/1705+1/G-C&&5'splice_donor_mutation&&intron11&&
&&LDLR/Mut/1705+1/G-T&&5'splice_donor_mutation&&intron11&&
&&LDLR/Mut/1731/G-T&&W577C&&exon12&&Mut/1731/G-T&&W556C&&exon12
|title=Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan
|doi=10.1007/s100380200005
|pmid=11916007
}}