Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation-Reference-Cited by-同舟云学术

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Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation

Published:2012-03 Issue:5-6 Volume:413 Page:552-555
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Martín-Campos Jesús M.,Roig Rosa,Mayoral Carme,Martinez Silvia,Martí Gertrudis,Arroyo Juan Antonio,Julve Josep,Blanco-Vaca Francisco

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference27 articles.

1. Familial hypobetalipoproteinemia: a review;Schonfeld;J Lipid Res,2003

2. Molecular diagnosis of hypobetalipoproteinemia: an ENID review;Tarugi;Atherosclerosis,2007

3. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid adsorption disorders;Jones;Nat Genet,2003

4. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia;Wetterau;Science,1992

5. Abetalipoproteinemia is caused by defects of the gene encoding the 97kDa subunit of a microsomal triglyceride transfer protein;Shoulders;Hum Mol Genet,1993

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