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Abstract: P1400 CHARACTERIZATION OF THE LOW DENSITY LIPOPROTEIN RECEPTOR GENE (LDLR) MUTATIONS IN GREEK FAMILIES WITH FAMILIAL HYPERCHOLESTEROLEMIA (FH)

โœ Scribed by Mollaki, V; Mavroidis, N; Laios, E; Koniari, E; Nikola, A; Tsoutsou, E; Skouma, A; Drogari, E


Book ID
122847723
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
85 KB
Volume
10
Category
Article
ISSN
1567-5688

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Low density lipoprotein receptor (LDLR)
โœ Jian Wang; Erin Huff; Lenny Janecka; Robert A. Hegele ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 1 views

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