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The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia

✍ Scribed by Ornella Guardamagna; Gabriella Restagno; Elio Rolfo; Cristina Pederiva; Scipione Martini; Francesca Abello; Viviana Baracco; Livia Pisciotta; Elisabetta Pino; Sebastiano Calandra; Stefano Bertolini

Book ID: 113745215
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 154 KB
Volume: 155
Category: Article
ISSN: 1097-6833
DOI: 10.1016/j.jpeds.2009.02.022

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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