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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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Detalles Bibliográficos
Autores principales: Lin, Xiaoping, Ma, Yuankun, Cai, Zhejun, Wang, Qiyuan, Wang, Lihua, Huo, Zhaoxia, Hu, Dan, Wang, Jian’an, Xiang, Meixiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011609/
https://www.ncbi.nlm.nih.gov/pubmed/32046637
http://dx.doi.org/10.1186/s12872-020-01369-5