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Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene

✍ Scribed by Tsunenori Hirayama; E. Yamaki; Akira Hata; Masahiro Tsuji; Kiyoshi Hashimoto; Masao Yamamoto; M. Emi


Book ID
106252460
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
370 KB
Volume
43
Category
Article
ISSN
1435-232X

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We used the denaturing gradient gel electrophoresis (DGGE) method to investigate 120 Japanese patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence of the low density lipoprotein (LDL) receptor gene. Fourteen aberran