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Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family

Long QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We encountered a 3-generation family with 5 affected family members in which LQTS was inherited in autosomal d...

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Detalles Bibliográficos
Autores principales: Park, Jong Keun, Oh, Yong-Seog, Choi, Jee-hyun, Yoon, Sungjoo Kim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763117/
https://www.ncbi.nlm.nih.gov/pubmed/24015048
http://dx.doi.org/10.3346/jkms.2013.28.9.1388