Molecular Diagnosis of Long-QT syndrome at 10 Days of Life by Rapid Whole Genome Sequencing

BACKGROUND: The advent of clinical next generation sequencing is rapidly changing the landscape of rare disease medicine. Molecular diagnosis of long QT syndrome (LQTS) can impact clinical management, including risk stratification and selection of pharmacotherapy based on the type of ion channel aff...

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Udgivet i:Heart Rhythm
Main Authors: Priest, James R., Ceresnak, Scott R., Dewey, Frederick E., Malloy-Walton, Lindsey E., Dunn, Kyla, Grove, Megan E., Perez, Marco V., Maeda, Katsuhide, Dubin, Anne M., Ashley, Euan A.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4379486/
https://ncbi.nlm.nih.gov/pubmed/24973560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2014.06.030
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