The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter
Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients
✍ Scribed by Dr. P. Lombardi; E.J.G. Sijbrands; S. Kamerling; A.H. Smelt; L.M. Havekes
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 409 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism caused by mutations
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The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter
Elevated blood plasma cholesterol (hypercholesterolemia) is a major risk factor for coronary artery disease (CAD) in humans. Genetic dissection of polygenic lipid and lipoprotein disorders in swine, a key animal model for the study of familial hypercholesterolemia (FH) and CAD, led to the isolation