A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease

Inherited cardiac conduction disease (CCD) is rare; it is caused by a large number of mutations in genes encoding cardiac ion channels and cytoskeletal proteins. Recently, whole-exome sequencing has been successfully used to identify causal mutations for rare monogenic Mendelian diseases. We used tr...

Descripción completa

Detalles Bibliográficos
Autores principales: Hsu, Lung-An, Ko, Yu-Shien, Yeh, Yung-Hsin, Chang, Chi-Jen, Chan, Yi-Hsin, Kuo, Chi-Tai, Tsai, Hsin-Yi, Chang, Gwo-Jyh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940838/
https://www.ncbi.nlm.nih.gov/pubmed/31835587
http://dx.doi.org/10.3390/ijms20246227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940838/
https://www.ncbi.nlm.nih.gov/pubmed/31835587
http://dx.doi.org/10.3390/ijms20246227

Ejemplares similares