A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated increase in plasmatic low-density lipoprotein (LDL) cholesterol levels associated with high risk of premature cardiovascular disease. Mutations in LDLR, APOB, and PCSK9 genes have been shown to cause ADH. We now report furthe...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Marques-Pinheiro, Alice, Marduel, Marie, Rabès, Jean-Pierre, Devillers, Martine, Villéger, Ludovic, Allard, Delphine, Weissenbach, Jean, Guerin, Maryse, Zair, Yassine, Erlich, Danièle, Junien, Claudine, Munnich, Arnold, Krempf, Michel, Abifadel, Marianne, Jaïs, Jean-Philippe, Boileau, Catherine, Varret, Mathilde
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987478/
https://ncbi.nlm.nih.gov/pubmed/20571503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.94
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