P348 MOLECULAR DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA (FH) IN GREECE. KNOWN AND NOVEL MUTATIONS IN THE LOW DENSITY LIPOPROTEIN RECEPTOR (LDLR) GENE
โ Scribed by Mollaki, V.; Progias, P.; Skouma, A.; Drogari, E.
- Book ID
- 118638421
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 84 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1567-5688
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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
Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol levels due to an increase in low density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from m