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...

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Udgivet i:PLoS One
Main Authors: Han, Soo Min, Hwang, Byungjin, Park, Tae-gun, Kim, Do-Il, Rhee, Moo-Yong, Lee, Byoung-Kwon, Ahn, Young Keun, Cho, Byung Ryul, Woo, Jeongtaek, Hur, Seung-Ho, Jeong, Jin-Ok, Park, Sungha, Jang, Yangsoo, Lee, Min Goo, Bang, Duhee, Lee, Ji Hyun, Lee, Sang-Hak
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4427254/
https://ncbi.nlm.nih.gov/pubmed/25962062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0126706
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