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

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...

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Bibliographic Details
Main Authors: Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele
Format: Article
Language:English
Published: Elsevier 2017-11-01
Series:Journal of Lipid Research
Subjects:
diagnostic tools
lipid and lipoprotein metabolism
molecular biology/genetics
LDL
lipoprotein receptors
coronary heart disease
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520338116

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http://www.sciencedirect.com/science/article/pii/S0022227520338116

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