Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9 (proprotein convertase subtilisin-kexin ty...

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Bibliografiske detaljer
Main Authors: Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques-Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean-Pierre
Format: Artigo
Sprog:Inglês
Udgivet: Wiley Subscription Services, Inc., A Wiley Company 2010
Fag:
Mutation in Brief
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3152176/
https://ncbi.nlm.nih.gov/pubmed/20809525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21348
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