Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Non-Synonymous Single Nucleotide Variants in Type 1 and 2 Long QT Syndrome

BACKGROUND: Hundreds of non-synonymous single nucleotide variants (nsSNVs) have been identified in the two most common LQTS-susceptibility genes (KCNQ1 and KCNH2). Unfortunately, a ~3% background rate of rare KCNQ1 and KCNH2 nsSNVs amongst healthy individuals complicates the ability to distinguish r...

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Bibliographic Details
Main Authors: Giudicessi, John R., Kapplinger, Jamie D., Tester, David J., Alders, Marielle, Salisbury, Benjamin A., Wilde, Arthur A.M., Ackerman, Michael J.
Format: Artigo
Language:Inglês
Published: 2012
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3705705/
https://ncbi.nlm.nih.gov/pubmed/22949429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.112.963785
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