## 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
Molecular genetics of familial hypercholesterolemia in Israel
β Scribed by Ayeleth Reshef; Henrik Nissen; Liat Triger; Torben Stiig Hensen; Osnat Eliav; Danny Schurr; Rifaat Safadi; Meir Gare; E. Leitersdorf
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 86 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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Familial hypercholesterolemia (FH), at a prevalence of about 1 in 200 in the French-Canadian population, is caused by a 10-kb deletion in the low-density lipoprotein (LDL) receptor gene in 60% of French-Canadian FH heterozygotes. We genotyped 159 FH patients who carry this common mutation and 221 he
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