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Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population

✍ Scribed by Wenxin Yu; Atsushi Nohara; Toshinori Higashikata; Hong Lu; Akihiro Inazu; Hiroshi Mabuchi


Book ID
119435691
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
142 KB
Volume
165
Category
Article
ISSN
0021-9150

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Communicated by Alec J. Jeffreys Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 19

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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