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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Detalles Bibliográficos
Autores principales: Khamis, Amna, Palmen, Jutta, Lench, Nick, Taylor, Alison, Badmus, Ebele, Leigh, Sarah, Humphries, Steve E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277481/
https://www.ncbi.nlm.nih.gov/pubmed/25248394
http://dx.doi.org/10.1038/ejhg.2014.199

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277481/
https://www.ncbi.nlm.nih.gov/pubmed/25248394
http://dx.doi.org/10.1038/ejhg.2014.199

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