Whole-Exome Sequencing to Identify a Novel LMNA Gene Mutation Associated with Inherited Cardiac Conduction Disease

BACKGROUND: Inherited cardiac conduction diseases (CCD) are rare but are caused by mutations in a myriad of genes. Recently, whole-exome sequencing has successfully led to the identification of causal mutations for rare monogenic Mendelian diseases. OBJECTIVE: To investigate the genetic background o...

Descripción completa

Detalles Bibliográficos
Autores principales: Lai, Chun-Chi, Yeh, Yung-Hsin, Hsieh, Wen-Ping, Kuo, Chi-Tai, Wang, Wen-Ching, Chu, Chia-Han, Hung, Chiu-Lien, Cheng, Chia-Yang, Tsai, Hsin-Yi, Lee, Jia-Lin, Tang, Chuan-Yi, Hsu, Lung-An
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861486/
https://www.ncbi.nlm.nih.gov/pubmed/24349489
http://dx.doi.org/10.1371/journal.pone.0083322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861486/
https://www.ncbi.nlm.nih.gov/pubmed/24349489
http://dx.doi.org/10.1371/journal.pone.0083322

Ejemplares similares