Cargando…
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...
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: | |
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 |
Ejemplares similares
-
A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease
por: Hsu, Lung-An, et al.
Publicado: (2019) -
A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome
por: Cheng, Yu-Wen, et al.
Publicado: (2023) -
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing
por: Chen, Pin-Shiuan, et al.
Publicado: (2023) -
Association evidence of CCTTT repeat polymorphism in the iNOS promoter and the risk of atrial fibrillation in Taiwanese
por: Hsu, Lung-An, et al.
Publicado: (2017) -
Aldehyde Dehydrogenase 2 Ameliorates Chronic Alcohol Consumption-Induced Atrial Fibrillation through Detoxification of 4-HNE
por: Hsu, Lung-An, et al.
Publicado: (2020)