Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an increased risk of premature atherosclerosis. The aim of this study was to characterize the LDLR mutations in a group of 476 apparently n
Molecular characterization of familial hypercholesterolemia in Spain
✍ Scribed by Lourdes Palacios; Laura Grandoso; Nerea Cuevas; Estíbaliz Olano-Martín; Antonio Martinez; Diego Tejedor; Marianne Stef
- Book ID
- 118423978
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 514 KB
- Volume
- 221
- Category
- Article
- ISSN
- 0021-9150
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We used the denaturing gradient gel electrophoresis (DGGE) method to define mutations in the promoter region, the 18 exons, and their flanking intronic sequences of the low-density lipoprotein (LDL) receptor gene LDLR, causing familial hypercholesterolemia (FH) phenotype in 100 German and in 100 Gre
## Communicated by Mark H. Paalman Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern ar