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...

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Detalles Bibliográficos
Autores principales: Fan, Peng, Zhang, Di, Yang, Kun-Qi, Tian, Tao, Luo, Fang, Liu, Ya-Xin, Wang, Lin-Ping, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
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

Internet

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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