A carregar...

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>...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Khamis, Amna, Palmen, Jutta, Lench, Nick, Taylor, Alison, Badmus, Ebele, Leigh, Sarah, Humphries, Steve E
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277481/
https://ncbi.nlm.nih.gov/pubmed/25248394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.199
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!