Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay-Reference-Cited by-同舟云学术

Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay

Published:2008-04-23 Issue:1 Volume:54 Page:79-82
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Nissen Henrik,Lestavel Sophie,Hansen Torben Stiig,Luc Gérald,Bruckert Eric,Clavey Veronique

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb03699.x/fullpdf

Reference20 articles.

1. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity;Pullinger;J Clin Invest,1995

2. Independent mutations at the codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia;Gaffney;Arterioscler Thromb Vasc Biol,1995

3. Association between a specific apolipoprotein B polymorphism and familial defective apolipoprotein B-100;Soria;Proc Natl Acad Sci,1989

4. Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile;Lestavel Delattre;Metabolism,1994

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3. Familial Hypercholesterolemia in Greek children and their families: Genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum;Atherosclerosis;2014-12

4. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia;Atherosclerosis;2011-05

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