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TUhjnbcbe - 2022/3/4 12:40:00

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

Abstract

Objectives:ThisstudyaimedtodiversifythespectrumofPRKAG2variantsandexploreitsclinicalfeaturesinaChineseHanpopulationwithhypertrophiccardiomyopathy(HCM).Methods:Whole-exomesequencingwasperformedonpatientsdiagnosedwithHCM,andfourcausativePRKAG2variantswereidentifiedintheprobandsandtheirrelativesusingSangersequencing.Theirclinicalmanifestations,laboratoryexaminations,therapeuticmethods,andout

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