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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is one of the leading causes for sudden cardiac death (SCD). Recent studies have identified mutations in cardiac desmosomes as key players in the pathogenesis of AC. However, the specific etiology in individual families remains largely unknown. METHODS:...

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Detalhes bibliográficos
Publicado no:BMC Cardiovasc Disord
Main Authors: Lin, Xiaoping, Ma, Yuankun, Cai, Zhejun, Wang, Qiyuan, Wang, Lihua, Huo, Zhaoxia, Hu, Dan, Wang, Jian’an, Xiang, Meixiang
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7011609/
https://ncbi.nlm.nih.gov/pubmed/32046637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12872-020-01369-5
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