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

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
Main Authors: René Wintjens, Dominique Bozon, Khaldia Belabbas, Félicien MBou, Jean-Philippe Girardet, Patrick Tounian, Mathilde Jolly, Franck Boccara, Ariel Cohen, Alexandra Karsenty, Béatrice Dubern, Jean-Claude Carel, Ahlam Azar-Kolakez, François Feillet, François Labarthe, Anne-Marie Colin Gorsky, Alice Horovitz, Catherine Tamarindi, Pierre Kieffer, Anne Lienhardt, Olivier Lascols, Mathilde Di Filippo, Fabienne Dufernez
Format: Article
Language:English
Published: Elsevier 2016-03-01
Series:Journal of Lipid Research
Subjects:
familial hypercholesterolemia
apolipoproteins
apolipoprotein E
cholesterol
low density lipoprotein
phenotype/genotype correlation
Online Access:http://www.sciencedirect.com/science/article/pii/S002222752035447X

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http://www.sciencedirect.com/science/article/pii/S002222752035447X

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