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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Veröffentlicht in:PLoS One
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
Schlagworte:
Research Article
Online Zugang: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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