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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...
Autores principales: | Zullo, Alberto, Frisso, Giulia, Detta, Nicola, Sarubbi, Berardo, Romeo, Emanuele, Cordella, Angela, Vanoye, Carlos G., Calabrò, Raffaele, George, Alfred L., Salvatore, Francesco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578023/ https://www.ncbi.nlm.nih.gov/pubmed/28749435 http://dx.doi.org/10.3390/ijms18081633 |
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