Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

@article{Maruyama1995CommonMI,
  title={Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.},
  author={Takao Maruyama and Yasuko Miyake and Shoji Tajima and Mariko Harada-Shiba and Taku Yamamura and Motoo Tsushima and Bun-ichiro Kishino and Yuji Horiguchi and Tohru Funahashi and Yuji Matsuzawa},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={1995},
  volume={15 10},
  pages={1713-8}
}
Familial hypercholesterolemia (FH) is a common genetic disorder caused by mutations of the LDL-receptor gene. In the present study, we investigated four Japanese FH homozygotes and identified five point mutations: a splice site mutation in intron 12 (the 1845 + 2 T-->C mutation), a missense mutation in exon 7 (the C317S mutation), a nonsense mutation in… CONTINUE READING