Article
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
Human mutation - 1 Jan 1999
Hattori H, Nagano M, Iwata F, Homma Y, Egashira T, Okada T
Abstract excerpt
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 aberrant DGGE patterns were found, and the underlying mutations were characterized by DNA sequencing. Five novel missense...
Topics
- Electrophoresis, Agar Gel
- Exons
- Humans
- Hyperlipoproteinemia Type II
- Japan
- Mutation
- Promoter Regions, Genetic
- Receptors, LDL