Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor (LDLR), APOB, and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes are well known to be associated with the...

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Bibliographic Details
Published in:	Journal of lipid research Vol. 57; no. 3; pp. 482 - 491
Main Authors:	Wintjens, René, Bozon, Dominique, Belabbas, Khaldia, MBou, Félicien, Girardet, Jean-Philippe, Tounian, Patrick, Jolly, Mathilde, Boccara, Franck, Cohen, Ariel, Karsenty, Alexandra, Dubern, Béatrice, Carel, Jean-Claude, Azar-Kolakez, Ahlam, Feillet, François, Labarthe, François, Gorsky, Anne-Marie Colin, Horovitz, Alice, Tamarindi, Catherine, Kieffer, Pierre, Lienhardt, Anne, Lascols, Olivier, Di Filippo, Mathilde, Dufernez, Fabienne
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-03-2016 American Society for Biochemistry and Molecular Biology The American Society for Biochemistry and Molecular Biology Elsevier
Subjects:	Adult apolipoprotein E apolipoproteins Apolipoproteins B - chemistry Apolipoproteins B - genetics Apolipoproteins E - genetics Child cholesterol Cohort Studies Endocrinology and metabolism Exons - genetics familial hypercholesterolemia Female France Genetics Genotyping Techniques Human genetics Human health and pathology Humans Hyperlipoproteinemia Type II - diagnosis Hyperlipoproteinemia Type II - genetics Life Sciences low density lipoprotein Male Models, Molecular Mutation Patient-Oriented and Epidemiological Research Phenotype phenotype/genotype correlation Proprotein Convertase 9 - genetics Protein Conformation, alpha-Helical Receptors, LDL - genetics Young Adult apolipoprotein E cholesterol apolipoproteins low density lipoprotein phenotype/genotype correlation familial hypercholesterolemia
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