View source for JASReference: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

{{JASReference|mutation=
&&LDLR/Mut/418/G-A&&E130K&&exon4&&Mut/418/G-A&&E119K&&exon4
&&LDLR/Mut/1845+2/T-C&&5'splice donor mutation&&Mut/1845+2/T-C&&5'splice donor mutation
&&LDLR/Mut/2054/C-T&&P685L&&exon14&&Mut/2054/C-T&&P664L&&exon14
&&LDLR/Mut/2431/A-T&&K811X&&exon17&&Mut/2431/A-T&&K790X&&exon17
|title=Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population
|doi=10.1161/01.ATV.15.10.1713
|pmid=7583548
|comment=The E130K mutation was also reported in [[JASReference:Hobbs_HH:Brown_MS:Goldstein_JL:,Hum_Mutat,1992,1,445|Hobbs HH, Hum Mutat 1: 445-66, 1992]]. The P685L mutation was also reported in [[JASReference:Soutar_AK:Knight_BL:Patel_DD:,Proc_Natl_Acad_Sci_U_S_A,1989,86,4166|Soutar AK, PNAS 86: 4166, 1989]].
}}