Allelic Complexity in Long QT Syndrome: A Family-Case Study

Allelic Complexity in Long QT Syndrome: A Family-Case Study

Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more...

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Bibliographic Details
Main Authors: Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi, Emanuele Romeo, Angela Cordella, Carlos G. Vanoye, Raffaele Calabrò, Alfred L. George, Francesco Salvatore
Format: Article
Language:English
Published: MDPI AG 2017-07-01
Series:International Journal of Molecular Sciences
Subjects:
long-QT syndrome
cardiac arrhythmias
potassium channels
electrophysiology
KCNQ1
KCNH2
HERG
Online Access:https://www.mdpi.com/1422-0067/18/8/1633

Internet

https://www.mdpi.com/1422-0067/18/8/1633

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