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...

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Hlavní autoři: Xue-Jie Li, Nian-Wei Zhou, Hui-Lin Xie, Wen Liu, Cui-Zhen Pan, Xian-Hong Shu
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Health/LWW 2021-01-01
Edice:Cardiology Plus
Témata:
hypertrophic cardiomyopathy; prkag2 protein; whole-exome sequencing
On-line přístup:http://www.cardiologyplus.org/article.asp?issn=2470-7511;year=2021;volume=6;issue=2;spage=132;epage=140;aulast=Li
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