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
✦ LIBER ✦
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig
✍ Scribed by H. Bochmann; J. Geisel; W. Herrmann; T. Purcz; W. Reuter; U. Julius; W. Metzler; S. Bergmann; W. Jaross; S. Gehrisch
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 36 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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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