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CardiolPlus丨汉族肥厚型心肌 [复制链接]

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引用本文:LiXJ,ZhouNW,XieHL,LiuW,PanCZ,ShuXH.DifferentialdiagnosisofPRKAG2cardiacsyndromeinhypertrophiccardiomyopathypatientsofhannationality.CardiolPlus;6:-40.

Abstract

ObjectiveshisstudyaimedtodiversifythespectrumofPRKAG2variantsandexploreitsclinicalfeaturesinaChineseHanpopulationwithhypertrophiccardiomyopathy(HCM).Methods:Whole-exomesequencingwasperformedonpatientsdiagnosedwithHCM,andfourcausativePRKAG2variantswereidentifiedintheprobandsandtheirrelativesusingSangersequencing.Theirclinicalmanifestations,laboratoryexaminations,therapeuticmethods,andout

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