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High prevalence of genetic variants previously associated with LQT syndrome in new exome data

To date, hundreds of variants in 13 genes have been associated with long QT syndrome (LQTS). The prevalence of LQTS is estimated to be between 1:2000 and 1:5000. The knowledge of genetic variation in the general population has until recently been limited, but newly published data from NHLBI GO Exome...

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Detalles Bibliográficos
Autores principales: Refsgaard, Lena, Holst, Anders G, Sadjadieh, Golnaz, Haunsø, Stig, Nielsen, Jonas B, Olesen, Morten S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400735/
https://www.ncbi.nlm.nih.gov/pubmed/22378279
http://dx.doi.org/10.1038/ejhg.2012.23