Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we...

Full description

Bibliographic Details
Main Authors: Soo Min Han, Byungjin Hwang, Tae-gun Park, Do-Il Kim, Moo-Yong Rhee, Byoung-Kwon Lee, Young Keun Ahn, Byung Ryul Cho, Jeongtaek Woo, Seung-Ho Hur, Jin-Ok Jeong, Sungha Park, Yangsoo Jang, Min Goo Lee, Duhee Bang, Ji Hyun Lee, Sang-Hak Lee
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4427254?pdf=render