Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia-Reference-Cited by-同舟云学术

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

Published:2016-07 Issue: Volume:250 Page:52-56
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Rimbert Antoine,Pichelin Matthieu^ORCID,Lecointe Simon,Marrec Marie,Le Scouarnec Solena,Barrak Elias,Croyal Mikael,Krempf Michel,Le Marec Hervé,Redon Richard,Schott Jean-Jacques^ORCID,Magré Jocelyne^ORCID,Cariou Bertrand

Funder

Fondation Leducq

Fundazione Cariplo

Fondation Génavie and Fondation de France

Ministère de l'éducation nationale, de l'enseignement supérieur et de la recherche

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference23 articles.

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2. Update on primary hypobetalipoproteinemia;Hooper;Curr. Atheroscler. Rep.,2014

3. PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia;Cariou;Arterioscler. Thromb. Vasc. Biol.,2009

4. Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy;Berge;Arterioscler. Thromb. Vasc. Biol.,2006

5. A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol;Fasano;Arterioscler. Thromb. Vasc. Biol.,2007

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