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Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

机译：DSG2（Desmoglein-2）中的半纯和纯合的功能突变导致隐性心律病学心肌病，早期发作

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Andreas Brodehl; Alexey Meshkov; Roman Myasnikov; Anna Kiseleva; Olga Kulikova; Bärbel Klauke; Evgeniia Sotnikova; Caroline Stanasiuk; Mikhail Divashuk; Greta Marie Pohl; Maria Kudryavtseva; Karin Klingel; Brenda Gerull; Anastasia Zharikova; Jan Gummert; Sergey Koretskiy; Stephan Schubert; Elena Mershina; Anna Gärtner; Polina Pilus; Kai Thorsten Laser; Valentin Sinitsyn; Sergey Boytsov; Oxana Drapkina; Hendrik Milting;
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1. In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns [J] . Debus Jana Davina, Milting Hendrik, Brodehl Andreas, Journal of Molecular and Cellular Cardiology . 2019,第期

机译：对心律源心肌病的体外分析相关的脱果糖体-2（DSG2）突变显示不同的糖基化模式
2. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 [J] . Sami Qadri, Olli Anttonen, Juho Viikil?, BMC Medical Genetics . 2017,第1期

机译：与DSG2纯合的Thr335Ala变异相关的两个谱系伴有隐性心律失常性右室心肌病的病例报告
3. Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy involving both Ventricles [J] . Lin Yubi Journal of the American College of Cardiology . 2017,第16期

机译：全基因组序列在涉及脑室的家族性心律源心肌病中鉴定了DSG2基因的罕见纯合致病突变
4. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 [O] . Sami Qadri, Olli Anttonen, Juho Viikilä, 2017

机译：与DSG2纯合的Thr335Ala变异相关的两个谱系伴隐性心律失常性右室心肌病的病例报告
5. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 [O] . Qadri, Sami, Anttonen, Olli, Viikila, Juho, 2017

机译：与DSG2纯合的Thr335Ala变体相关的两个谱系伴有隐性心律失常性右室心肌病的病例报告

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

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