A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia
✍ Scribed by S. Cassanelli; S. Bertolini; M. Rolleri; F De Stefano; L. Casarino; N. Elicio; A. Naselli; S. Calandra
- Book ID
- 110887788
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 773 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Heterozygous familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder, which is characterized by elevated plasma concentrations of low density lipoprotein (LDL) cholesterol and early coronary heart disease. FH results from mutations in the gene encoding the LDL receptor
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
During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5" end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDN