In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family-Reference-Cited by-同舟云学术

In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family

Published:2019-10 Issue:10 Volume:60 Page:1733-1740
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Winther Michael,Shpitzen Shoshi,Yaacov Or,Landau Jakob,Oren Limor,Foroozan-Rosenberg Linda,Lev Cohain Naama,Schurr Daniel,Meiner Vardiela,Szalat Auryan,Carmi Shai,Hayden Michael R.^ORCID,Leitersdorf Eran,Durst Ronen

Funder

Israel Science Foundation

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference35 articles.

1. Evidence of a vicious cycle in mitral regurgitation with prolapse: secondary tethering attributed to primary prolapse demonstrated by three-dimensional echocardiography exacerbates regurgitation;Otani;Circulation.,2012

2. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review;Austin;Am. J. Epidemiol.,2004

3. Phenotypic variability in familial hypercholesterolaemia: an update;Jansen;Curr. Opin. Lipidol.,2002

4. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations;Kotze;Arterioscler. Thromb.,1993

5. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia;Sprecher;Metabolism.,1985

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