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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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Detalles Bibliográficos
Autores principales: Zullo, Alberto, Frisso, Giulia, Detta, Nicola, Sarubbi, Berardo, Romeo, Emanuele, Cordella, Angela, Vanoye, Carlos G., Calabrò, Raffaele, George, Alfred L., Salvatore, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
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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