A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome

KCNH2 loss-of-function mutations cause long QT syndrome type 2 (LQT2), an inherited cardiac disorder associated with life-threatening ventricular arrhythmia. Through whole-exome sequencing, we discovered a novel AGCGACAC deletion (S981fs) in the hERG gene of an LQT2 patient. Using a heterologous exp...

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Detalles Bibliográficos
Autores principales: Cheng, Yu-Wen, Wu, Chia-Tung, Chang, Chi-Jen, Yeh, Yung-Hsin, Chang, Gwo-Jyh, Tsai, Hsin-Yi, Hsu, Lung-An
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454316/
https://www.ncbi.nlm.nih.gov/pubmed/37628921
http://dx.doi.org/10.3390/ijms241612742

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454316/
https://www.ncbi.nlm.nih.gov/pubmed/37628921
http://dx.doi.org/10.3390/ijms241612742

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