Familial hypercholesterolemia (FH) is a genetic disorder caused by numerous mutations in the low-density lipoprotein receptor (LDLR) gene. Mutational analyses of Indians in South Africa suggest the possibility of a high frequency of FH in India. This study aimed at identifying mutations in exons 3,
Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X
β Scribed by Janine Genschel; Hans-Peter Thomas; Ursula Kassner; Herbert Lochs; Elisabeth Steinhagen-Thiessen; Hartmut H-J. Schmidt
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 14 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.44
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
We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor ge
In order to identify mutations in the low density lipoprotein receptor (LDLR) gene in primary hypercholesterolemia, we screened 100 unrelated German individuals with elevated plasma LDL-C (LDL-C > 4,7 mmol/l) for mutations in the 18 exons and their flanking intronic sequences including the promoter