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
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay
✍ Scribed by Henrik Nissen; Sophie Lestavel; Torben Stiig Hansen; Gérald Luc; Eric Bruckert; Veronique Clavey
- Book ID
- 110887803
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 371 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0009-9163
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During a survey of Italian patients with familial hypercholesterolemia (FH), we identified an FH heterozygous patient with a gross rearrangement of the low density lipoprotein (LDL) receptor gene. Southern blot analysis of the proband's DNA digested with restriction enzymes PvuII, BamHI, BglII and X
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