Article
Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
Clinical genetics - 1 Mar 2000
Shin J A, Kim S H, Kim U K, Chae J J, Choe S J, Namkoong Y, Kim H S, Park Y B, Lee C C
Abstract excerpt
To obtain insight into the genetic variation of the low-density lipoprotein (LDL) receptor gene in Korean patients with familial hypercholesterolemia (FH), we used single-strand conformation polymorphism to screen all 18 exons and a promotor of the LDL receptor gene in 20 unrelated Korean FH patients. Four novel point mutations were detected in 5 FH patients and were characterized by sequence analysis. Of them,...
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