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A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

BACKGROUND: GWAS have consistently revealed that LDLR locus variability influences LDL-cholesterol in general population. Severe LDLR mutations are responsible for familial hypercholesterolemia (FH). However, most primary hypercholesterolemias are polygenic diseases. Although Cis-regulatory regions...

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Detalles Bibliográficos
Autores principales: De Castro-Orós, Isabel, Pérez-López, Javier, Mateo-Gallego, Rocio, Rebollar, Soraya, Ledesma, Marta, León, Montserrat, Cofán, Montserrat, Casasnovas, Jose A, Ros, Emilio, Rodríguez-Rey, Jose C, Civeira, Fernando, Pocoví, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021749/
https://www.ncbi.nlm.nih.gov/pubmed/24708769
http://dx.doi.org/10.1186/1755-8794-7-17