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Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report
Progressive cardiac conduction defect (PCCD) is an inherited autosomal dominant cardiac disorder characterized by an age-dependent cardiac electrical conduction block. Several genes have been associated with the genetic pathogenesis of PCCD. The present study aimed to identify the causal mutation of...
Autores principales: | Fan, Peng, Zhang, Di, Yang, Kun-Qi, Tian, Tao, Luo, Fang, Liu, Ya-Xin, Wang, Lin-Ping, Zhou, Xian-Liang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185278/ https://www.ncbi.nlm.nih.gov/pubmed/32323820 http://dx.doi.org/10.3892/mmr.2020.11048 |
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