Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation-Reference-Cited by-同舟云学术

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Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

Published:2012-10-11 Issue:1 Volume:34 Page:83-87
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marduel Marie,Ouguerram Khadija¹,Serre Valérie,Bonnefont-Rousselot Dominique,Marques-Pinheiro Alice²,Erik Berge Knut³,Devillers Martine²,Luc Gérald,Lecerf Jean-Michel⁴,Tosolini Laurent⁵,Erlich Danièle⁶,Peloso Gina M.⁷,Stitziel Nathan⁷,Nitchké Patrick,Jaïs Jean-Philippe,Abifadel Marianne,Kathiresan Sekar⁷,Leren Trond Paul³,Rabès Jean-Pierre,Boileau Catherine,Varret Mathilde,

Affiliation:

1. INSERM U915; Institut du Thorax; Université de Nantes; Nantes; France

2. INSERM U781; Paris; France

3. Medical Genetics Laboratory; Oslo University Hospital Rikshospitalet; Oslo; Norway

4. Department of Internal Medicine; University Hospital of Lille; Lille; France

5. INSERM U698; Paris; France

6. Université Paris Denis Diderot; Paris; France

7. Broad Institute; Cambridge; Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22215/fullpdf

Reference32 articles.

1. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat Genet,2003

2. Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis;Besley;Clin Genet,1984

3. Sea-blue histiocytosis in hyperlipoproteinemia (cytomorphological, clinical and pathogenetic aspects);Castoldi;Haematologica,1974

4. A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22;Cenarro;Clin Genet,2011

5. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting;Civeira;J Am Coll Cardiol,2008

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