Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disease characterised by increased low-density lipoprotein cholesterol (LDL-C) levels. The functionality of four novel variants within the LDLR 5′UTR and promoter located at c.-13A>G, c.-101T>C, c.-121T>C and c.-215A>...

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Bibliographic Details
Main Authors: Khamis, Amna, Palmen, Jutta, Lench, Nick, Taylor, Alison, Badmus, Ebele, Leigh, Sarah, Humphries, Steve E
Format: Online
Language:English
Published: Nature Publishing Group 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277481/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277481/

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