Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan

In the course of investigations of familial coronary artery disease in Hokkaido, the northland of Japan, we identified 13 families affected by familial hypercholesterolemia. Among them, we identified eight novel mutations of the low-density lipoprotein (LDL) receptor gene, four of which caused frame...

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