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Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2

Long QT syndrome (LQTS) is an inherited disorder characterized by prolonged QT intervals and potentially life-threatening arrhythmias. Mutations in 12 different genes have been associated with LQTS. Here we describe a patient with LQTS who has a mutation in KCNQ1 as well as a polymorphism in KCNH2....

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Dettagli Bibliografici
Autori principali: Cordeiro, Jonathan M., Perez, Guillermo J., Schmitt, Nicole, Pfeiffer, Ryan, Nesterenko, Vladislav V., Burashnikov, Elena, Veltmann, Christian, Borggrefe, Martin, Wolpert, Christian, Schimpf, Rainer, Antzelevitch, Charles
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3076201/
https://ncbi.nlm.nih.gov/pubmed/21164565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1139/y10-094
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