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[S]

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[S]

We previously identified a highly consanguineous familial hypercholesterolemia (FH) family demonstrating segregation of the JD Bari mutation in the LDL receptor as well as a putative cholesterol-lowering trait. We aimed to identify genes related to the latter effect. LDL cholesterol (LDLc) values we...

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Bibliographic Details
Main Authors: Michael Winther, Shoshi Shpitzen, Or Yaacov, Jakob Landau, Limor Oren, Linda Foroozan-Rosenberg, Naama Lev Cohain, Daniel Schurr, Vardiela Meiner, Auryan Szalat, Shai Carmi, Michael R. Hayden, Eran Leitersdorf, Ronen Durst
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:Journal of Lipid Research
Subjects:
low density lipoprotein
genetics
cholesterol metabolism
diseases/dyslipidemia
gene expression/polymorphisms
genes in lipid dysfunction
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520323051

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http://www.sciencedirect.com/science/article/pii/S0022227520323051

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