Common Mutations in the Low-Density-Lipoprotein-Receptor Gene Causing Familial Hypercholesterolemia in the Japanese Population

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 mutationsa splice site mutation in intron 12 (the 1845 + 2 T-->C mutation), a missense mutatio...

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