Variety of mutations of the LDL receptor gene in Japanese familial hypercholesterolemia
β Scribed by H. Hattori; M. Nagano; T. Egashira; M. Tsuji; T. Hirayama; M. Emi; T. Okada
- Book ID
- 119439490
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 155 KB
- Volume
- 144
- Category
- Article
- ISSN
- 0021-9150
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
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