Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure often includes targeted next-generation sequencin...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2017-11-01
coleção:	Journal of Lipid Research
Assuntos:	diagnostic tools lipid and lipoprotein metabolism molecular biology/genetics LDL lipoprotein receptors coronary heart disease
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S0022227520338116
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!