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Allelic Complexity in Long QT Syndrome: A Family-Case Study

Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Zullo, Alberto, Frisso, Giulia, Detta, Nicola, Sarubbi, Berardo, Romeo, Emanuele, Cordella, Angela, Vanoye, Carlos G., Calabrò, Raffaele, George, Alfred L., Salvatore, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5578023/
https://ncbi.nlm.nih.gov/pubmed/28749435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18081633
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