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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427254/
https://www.ncbi.nlm.nih.gov/pubmed/25962062
http://dx.doi.org/10.1371/journal.pone.0126706