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Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C, Linked to Autosomal Dominant Long QT Syndrome

BACKGROUND: Long QT syndrome (LQTS) is the most common cardiac channelopathy with 15 elucidated LQTS-susceptibility genes. Approximately 20% of LQTS cases remain genetically elusive. METHODS AND RESULTS: We combined whole exome sequencing (WES) and bioinformatic/systems biology to identify the patho...

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Hlavní autoři: Boczek, Nicole J., Best, Jabe M., Tester, David J., Giudicessi, John R., Middha, Sumit, Evans, Jared M., Kamp, Timothy J., Ackerman, Michael J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3760222/
https://ncbi.nlm.nih.gov/pubmed/23677916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.113.000138
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