基于全外显子测序的韩国家族性高胆固醇血症基因检测

资源简介

基于全外显子测序的韩国家族性高胆固醇血症基因检测

【数据集背景】

本数据集源站标题为《Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing》。配套论文《Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing》发表于 PLOS ONE（2015），DOI：10.1371/journal.pone.0126706。源站首次发布：2015-05-11。

【数据内容】

源站原始描述：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 aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH, 69 who met Simon Broome criteria with definite family history were enrolled. By whole…

【数据结构与技术规格】

文件数 3 个，合计 323.29 KB。S1_Fig.tif：image/tiff，286.69 KB。S1_Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，18.49 KB。S2_Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，18.11 KB。数据集 DOI：10.1371/journal.pone.0126706。

【主题与分类】

源站学科分类：Biological Sciences。主题标签：PCSK 9 genes、23 patients、FH cases、Simon Broome criteria、family history、apob、genetic testing、artery disease、copy number deletion、Novel Mutation。

【适用方向】

源站学科分类标注为 Biological Sciences。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Genetic_Testing_of_Korean_Familial_Hypercholesterolemia_Using_Whole_Exome_Sequencing_/1409881

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Min Han, Soo; Hwang, Byungjin; Park, Tae-gun; Kim, Do-Il; Rhee, Moo-Yong; Lee, Byoung-Kwon; et al. (2016). Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-05，引用时请注意版本时效。