Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality

Objectives: This study aimed to diversify the spectrum of PRKAG2 variants and explore its clinical features in a Chinese Han population with hypertrophic cardiomyopathy (HCM). Methods: Whole-exome sequencing was performed on 200 patients diagnosed with HCM, and four causative PRKAG2 variants were id...

詳細記述

書誌詳細
主要な著者: Xue-Jie Li, Nian-Wei Zhou, Hui-Lin Xie, Wen Liu, Cui-Zhen Pan, Xian-Hong Shu
フォーマット: 論文
言語:English
出版事項: Wolters Kluwer Health/LWW 2021-01-01
シリーズ:Cardiology Plus
主題:
オンライン・アクセス:http://www.cardiologyplus.org/article.asp?issn=2470-7511;year=2021;volume=6;issue=2;spage=132;epage=140;aulast=Li